PAH c.1208C>T ;(p.A403V)

Variant ID: 12-103234285-G-A

NM_000277.1(PAH):c.1208C>T;(p.A403V)

This variant was identified in 64 publications

View GRCh38 version.




Publications:


Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth.

Scientific Reports
Theron, Maurane M; Jeannesson, Elise E; Canton, Marie M; Namour, Farès F; Oussalah, Abderrahim A; Feillet, François F; Wiedemann, Arnaud A
Publication Date: 2023-06-12

Variant appearance in text: PAH: 1208C>T
PubMed Link: 37308610
Variant Present in the following documents:
  • 41598_2023_Article_36550.pdf
View BVdb publication page



Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

Endocrinology, Diabetes & Metabolism
Rovelli, Valentina V; Cefalo, Graziella G; Ercoli, Vittoria V; Zuvadelli, Juri J; Olivia, Turri T; Graziani, Daniela D; Luisella, Alberti A; Bassi, Davide D; Re Dionigi, Alice A; Selmi, Raed R; Paci, Sabrina S; Salvatici, Elisabetta E; Banderali, Giuseppe G
Publication Date: 2022-12-19

Variant appearance in text: PAH: A403V
PubMed Link: 36537053
Variant Present in the following documents:
  • Main text
  • EDM2-6-e396.pdf
View BVdb publication page



Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Jimd Reports
Martín-Rivada, Álvaro Á; Palomino Pérez, Laura L; Ruiz-Sala, Pedro P; Navarrete, Rosa R; Cambra Conejero, Ana A; Quijada Fraile, Pilar P; Moráis López, Ana A; Belanger-Quintana, Amaya A; Martín-Hernández, Elena E; Bellusci, Marcello M; Cañedo Villaroya, Elvira E; Chumillas Calzada, Silvia S; García Silva, María Teresa MT; Bergua Martínez, Ana A; Stanescu, Sinziana S; Martínez-Pardo Casanova, Mercedes M; Ruano, Miguel L F MLF; Ugarte, Magdalena M; Pérez, Belén B; Pedrón-Giner, Consuelo C
Publication Date: 2022-03

Variant appearance in text: PAH: A403V
PubMed Link: 35281663
Variant Present in the following documents:
  • Main text
  • JMD2-63-146.pdf
View BVdb publication page



Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: PAH: 1208C>T; A403V; rs5030857
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
  • mmc5.xlsx, sheet 1
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: PAH: A403V; rs5030857
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19

Variant appearance in text: PAH: 1208C>T; Ala403Val; rs5030857
PubMed Link: 35046417
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_270.pdf
View BVdb publication page



The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19

Variant appearance in text: PAH: 1208C>T; Ala403Val; rs5030857
PubMed Link: 35046417
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_270.pdf
View BVdb publication page



Early Identification of DMD in the Setting of West Syndrome.

Child Neurology Open
Razeq, Ahmed A; Ahmad, Samiya S
Publication Date: 2021

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 34869784
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.

Genes
Vela-Amieva, Marcela M; Alcántara-Ortigoza, Miguel Angel MA; Ibarra-González, Isabel I; González-Del Angel, Ariadna A; Fernández-Hernández, Liliana L; Guillén-López, Sara S; López-Mejía, Lizbeth L; Carrillo-Nieto, Rosa Itzel RI; Belmont-Martínez, Leticia L; Fernández-Lainez, Cynthia C
Publication Date: 2021-10-23

Variant appearance in text: PAH: Ala403Val
PubMed Link: 34828281
Variant Present in the following documents:
  • Main text
  • genes-12-01676.pdf
View BVdb publication page



Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families.

Chinese Medical Journal
Xiao, Yang Y; Gu, Qiang Q; Wu, Hai-Rong HR; Wang, Song-Tao ST; Pei, Pei P; Zheng, Xue-Fei XF; Pan, Hong H; Ma, Yi-Nan YN
Publication Date: 2021-05-19

Variant appearance in text: PAH: 1208C>T
PubMed Link: 34039861
Variant Present in the following documents:
  • cm9-134-1626-s001.pdf
View BVdb publication page



Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.

International Journal Of Neonatal Screening
Odagiri, Shino S; Kabata, Daijiro D; Tomita, Shogo S; Kudo, Satoshi S; Sakaguchi, Tomoko T; Nakano, Noriko N; Yamamoto, Kouji K; Shintaku, Haruo H; Hamazaki, Takashi T
Publication Date: 2021-03-18

Variant appearance in text: PAH: A403V
PubMed Link: 33803550
Variant Present in the following documents:
  • Main text
  • IJNS-07-00017.pdf
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: PAH: A403V
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Molecular Genetics & Genomic Medicine
Ferreira, Filipa F; Azevedo, Luísa L; Neiva, Raquel R; Sousa, Carmen C; Fonseca, Helena H; Marcão, Ana A; Rocha, Hugo H; Carmona, Célia C; Ramos, Sónia S; Bandeira, Anabela A; Martins, Esmeralda E; Campos, Teresa T; Rodrigues, Esmeralda E; Garcia, Paula P; Diogo, Luísa L; Ferreira, Ana Cristina AC; Sequeira, Silvia S; Silva, Francisco F; Rodrigues, Luísa L; Gaspar, Ana A; Janeiro, Patrícia P; Amorim, António A; Vilarinho, Laura L
Publication Date: 2021-03

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 33465300
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1559.pdf
View BVdb publication page



Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.

Molecular Genetics And Metabolism Reports
Kreile, M M; Lubina, O O; Ozola-Zalite, I I; Lugovska, R R; Pronina, N N; Sterna, O O; Vevere, P P; Konika, M M; Malniece, I I; Gailite, L L
Publication Date: 2020-12

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 33101986
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine
Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2020-09-22

Variant appearance in text: PAH: A403V; rs5030857
PubMed Link: 32971794
Variant Present in the following documents:
  • Main text
  • jpm-10-00140-s001.pdf
  • jpm-10-00140.pdf
View BVdb publication page



The Genetic Landscape and Epidemiology of Phenylketonuria.

American Journal Of Human Genetics
Hillert, Alicia A; Anikster, Yair Y; Belanger-Quintana, Amaya A; Burlina, Alberto A; Burton, Barbara K BK; Carducci, Carla C; Chiesa, Ana E AE; Christodoulou, John J; Đorđević, Maja M; Desviat, Lourdes R LR; Eliyahu, Aviva A; Evers, Roeland A F RAF; Fajkusova, Lena L; Feillet, François F; Bonfim-Freitas, Pedro E PE; Giżewska, Maria M; Gundorova, Polina P; Karall, Daniela D; Kneller, Katya K; Kutsev, Sergey I SI; Leuzzi, Vincenzo V; Levy, Harvey L HL; Lichter-Konecki, Uta U; Muntau, Ania C AC; Namour, Fares F; Oltarzewski, Mariusz M; Paras, Andrea A; Perez, Belen B; Polak, Emil E; Polyakov, Alexander V AV; Porta, Francesco F; Rohrbach, Marianne M; Scholl-Bürgi, Sabine S; Spécola, Norma N; Stojiljković, Maja M; Shen, Nan N; Santana-da Silva, Luiz C LC; Skouma, Anastasia A; van Spronsen, Francjan F; Stoppioni, Vera V; Thöny, Beat B; Trefz, Friedrich K FK; Vockley, Jerry J; Yu, Youngguo Y; Zschocke, Johannes J; Hoffmann, Georg F GF; Garbade, Sven F SF; Blau, Nenad N
Publication Date: 2020-08-06

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 32668217
Variant Present in the following documents:
  • Main text
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: PAH: 1208C>T; Ala403Val; rs5030857
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition.

Metabolites
Pieragostino, Damiana D; Cicalini, Ilaria I; Di Michele, Silvia S; Fusilli, Paola P; Cotugno, Giovanna G; Ferrante, Rossella R; Bucci, Ines I; Dionisi-Vici, Carlo C; Stuppia, Liborio L; De Laurenzi, Vincenzo V; Rossi, Claudia C
Publication Date: 2020-01-24

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 31991569
Variant Present in the following documents:
  • Main text
  • metabolites-10-00044.pdf
View BVdb publication page



Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
View BVdb publication page



Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.

International Journal Of Molecular Sciences
Zinchenko, Rena A RA; Makaov, Amin Kh AK; Marakhonov, Andrey V AV; Galkina, Varvara A VA; Kadyshev, Vitaly V VV; El'chinova, Galina I GI; Dadali, Elena L EL; Mikhailova, Lyudmila K LK; Petrova, Nika V NV; Petrina, Nina E NE; Vasilyeva, Tatyana A TA; Gundorova, Polina P; Polyakov, Alexander V AV; Alexandrova, Oksana Y OY; Kutsev, Sergey I SI; Ginter, Eugeny K EK
Publication Date: 2020-01-03

Variant appearance in text: PAH: 1208C>T; A403V
PubMed Link: 31947737
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Scientific Reports
Xiang, Jiale J; Yang, Jiyun J; Chen, Lisha L; Chen, Qiang Q; Yang, Haiyan H; Sun, Chengcheng C; Zhou, Qing Q; Peng, Zhiyu Z
Publication Date: 2020-01-15

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 31942019
Variant Present in the following documents:
  • 41598_2019_57335_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.

Ebiomedicine
Oussalah, Abderrahim A; Jeannesson-Thivisol, Elise E; Chéry, Céline C; Perrin, Pascal P; Rouyer, Pierre P; Josse, Thomas T; Cano, Aline A; Barth, Magalie M; Fouilhoux, Alain A; Mention, Karine K; Labarthe, François F; Arnoux, Jean-Baptiste JB; Maillot, François F; Lenaerts, Catherine C; Dumesnil, Cécile C; Wagner, Kathy K; Terral, Daniel D; Broué, Pierre P; De Parscau, Loic L; Gay, Claire C; Kuster, Alice A; Bédu, Antoine A; Besson, Gérard G; Lamireau, Delphine D; Odent, Sylvie S; Masurel, Alice A; Rodriguez-Guéant, Rosa-Maria RM; Feillet, François F; Guéant, Jean-Louis JL; Namour, Fares F
Publication Date: 2020-01

Variant appearance in text: PAH: 1208C>T; Ala403Val; rs5030857
PubMed Link: 31923802
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.

Molecular Cytogenetics
Koumbaris, George G; Achilleos, Achilleas A; Nicolaou, Michalis M; Loizides, Charalambos C; Tsangaras, Kyriakos K; Kypri, Elena E; Mina, Petros P; Sismani, Carolina C; Velissariou, Voula V; Christopoulou, Georgia G; Constantoulakis, Pantelis P; Manolakos, Emmanouil E; Papoulidis, Ioannis I; Stambouli, Danai D; Ioannides, Marios M; Patsalis, Philippos P
Publication Date: 2019

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 31832098
Variant Present in the following documents:
  • 13039_2019_459_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: PAH: 1208C>T; Ala403Val; rs5030857
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 31783775
Variant Present in the following documents:
  • Main text
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 8
  • 13073_2019_Article_683.pdf
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: PAH: 1208C>T; Ala403Val; rs5030857
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



PEDIA: prioritization of exome data by image analysis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hsieh, Tzung-Chien TC; Mensah, Martin A MA; Pantel, Jean T JT; Aguilar, Dione D; Bar, Omri O; Bayat, Allan A; Becerra-Solano, Luis L; Bentzen, Heidi B HB; Biskup, Saskia S; Borisov, Oleg O; Braaten, Oivind O; Ciaccio, Claudia C; Coutelier, Marie M; Cremer, Kirsten K; Danyel, Magdalena M; Daschkey, Svenja S; Eden, Hilda David HD; Devriendt, Koenraad K; Wilson, Sandra S; Douzgou, Sofia S; Đukić, Dejan D; Ehmke, Nadja N; Fauth, Christine C; Fischer-Zirnsak, Björn B; Fleischer, Nicole N; Gabriel, Heinz H; Graul-Neumann, Luitgard L; Gripp, Karen W KW; Gurovich, Yaron Y; Gusina, Asya A; Haddad, Nechama N; Hajjir, Nurulhuda N; Hanani, Yair Y; Hertzberg, Jakob J; Hoertnagel, Konstanze K; Howell, Janelle J; Ivanovski, Ivan I; Kaindl, Angela A; Kamphans, Tom T; Kamphausen, Susanne S; Karimov, Catherine C; Kathom, Hadil H; Keryan, Anna A; Knaus, Alexej A; Köhler, Sebastian S; Kornak, Uwe U; Lavrov, Alexander A; Leitheiser, Maximilian M; Lyon, Gholson J GJ; Mangold, Elisabeth E; Reina, Purificación Marín PM; Carrascal, Antonio Martinez AM; Mitter, Diana D; Herrador, Laura Morlan LM; Nadav, Guy G; Nöthen, Markus M; Orrico, Alfredo A; Ott, Claus-Eric CE; Park, Kristen K; Peterlin, Borut B; Pölsler, Laura L; Raas-Rothschild, Annick A; Randolph, Linda L; Revencu, Nicole N; Fagerberg, Christina Ringmann CR; Robinson, Peter Nick PN; Rosnev, Stanislav S; Rudnik, Sabine S; Rudolf, Gorazd G; Schatz, Ulrich U; Schossig, Anna A; Schubach, Max M; Shanoon, Or O; Sheridan, Eamonn E; Smirin-Yosef, Pola P; Spielmann, Malte M; Suk, Eun-Kyung EK; Sznajer, Yves Y; Thiel, Christian T CT; Thiel, Gundula G; Verloes, Alain A; Vrecar, Irena I; Wahl, Dagmar D; Weber, Ingrid I; Winter, Korina K; Wiśniewska, Marzena M; Wollnik, Bernd B; Yeung, Ming W MW; Zhao, Max M; Zhu, Na N; Zschocke, Johannes J; Mundlos, Stefan S; Horn, Denise D; Krawitz, Peter M PM
Publication Date: 2019-12

Variant appearance in text: PAH: 1208C>T
PubMed Link: 31164752
Variant Present in the following documents:
  • 41436_2019_566_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.

Methods And Protocols
Tolve, Manuela M; Artiola, Cristiana C; Pasquali, Amelia A; Giovanniello, Teresa T; D'Amici, Sirio S; Angeloni, Antonio A; Pizzuti, Antonio A; Carducci, Claudia C; Leuzzi, Vincenzo V; Carducci, Carla C
Publication Date: 2018-08-16

Variant appearance in text: PAH: Ala403Val
PubMed Link: 31164572
Variant Present in the following documents:
  • Main text
  • mps-01-00030.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia.

Plos One
Gundorova, Polina P; Stepanova, Anna A AA; Kuznetsova, Irina A IA; Kutsev, Sergey I SI; Polyakov, Aleksander V AV
Publication Date: 2019

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 30668579
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: PAH: A403V; rs5030857
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



High-frequency actionable pathogenic exome variants in an average-risk cohort.

Cold Spring Harbor Molecular Case Studies
Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP
Publication Date: 2018-12

Variant appearance in text: PAH: 1208C>T; A403V
PubMed Link: 30487145
Variant Present in the following documents:
  • supp_mcs.a003178_Supplemental_File_1.xlsx, sheet 1
View BVdb publication page



Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China.

Scientific Reports
Chen, Ting T; Xu, Weize W; Wu, Dingwen D; Han, Jiamin J; Zhu, Ling L; Tong, Fan F; Yang, Rulai R; Zhao, Zhengyan Z; Jiang, Pingping P; Shu, Qiang Q
Publication Date: 2018-11-20

Variant appearance in text: PAH: A403V
PubMed Link: 30459323
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_35373.pdf
View BVdb publication page



Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.

Scientific Reports
Li, Nana N; He, Chunhua C; Li, Jing J; Tao, Jing J; Liu, Zhen Z; Zhang, Chunyan C; Yuan, Yuan Y; Jiang, Hui H; Zhu, Jun J; Deng, Ying Y; Guo, Yixiong Y; Li, Qintong Q; Yu, Ping P; Wang, Yanping Y
Publication Date: 2018-07-26

Variant appearance in text: PAH: A403V
PubMed Link: 30050108
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29640.pdf
View BVdb publication page



Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Molecular Genetics & Genomic Medicine
Vieira Neto, Eduardo E; Laranjeira, Francisco F; Quelhas, Dulce D; Ribeiro, Isaura I; Seabra, Alexandre A; Mineiro, Nicole N; D M Carvalho, Lilian L; Lacerda, Lúcia L; G Ribeiro, Márcia M
Publication Date: 2018-05-10

Variant appearance in text: PAH: A403V
PubMed Link: 29749107
Variant Present in the following documents:
  • MGG3-6-575.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: PAH: 1208C>T; A403V
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Investigation of Five Common Mutations on Phenylalanine Hydroxylase Gene of Phenylketonuria Patients from Two Provinces in North of Iran.

International Journal Of Preventive Medicine
Zamanfar, Daniel D; Jalali, Hossein H; Mahdavi, Mohammad Reza MR; Maadanisani, Morteza M; Zaeri, Hossein H; Asadpoor, Eynollah E
Publication Date: 2017

Variant appearance in text: PAH: A403V
PubMed Link: 29184640
Variant Present in the following documents:
  • Main text
  • IJPVM-8-89.pdf
View BVdb publication page



Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.

Jimd Reports
Lilleväli, Hardo H; Reinson, Karit K; Muru, Kai K; Simenson, Kristi K; Murumets, Ülle Ü; Möls, Tõnu T; Õunap, Katrin K
Publication Date: 2018

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 28956315
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism.

Molecular Genetics And Metabolism Reports
Purevsuren, Jamiyan J; Bolormaa, Baasandai B; Narantsetseg, Chogdon C; Batsolongo, Renchindorj R; Enkhchimeg, Ochirbat O; Bayalag, Munkhuu M; Hasegawa, Yuki Y; Shintaku, Haruo H; SeijiYamaguchi,
Publication Date: 2016-12

Variant appearance in text: PAH: A403V
PubMed Link: 27830119
Variant Present in the following documents:
  • Main text
View BVdb publication page



Convert your favorite protein modeling program into a mutation predictor: "MODICT".

Bmc Bioinformatics
Tanyalcin, Ibrahim I; Stouffs, Katrien K; Daneels, Dorien D; Al Assaf, Carla C; Lissens, Willy W; Jansen, Anna A; Gheldof, Alexander A
Publication Date: 2016-10-19

Variant appearance in text: PAH: A403V
PubMed Link: 27760515
Variant Present in the following documents:
  • Main text
  • 12859_2016_Article_1286.pdf
View BVdb publication page



The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.

Jimd Reports
Ohlsson, Annika A; Bruhn, Helene H; Nordenström, Anna A; Zetterström, Rolf H RH; Wedell, Anna A; von Döbeln, Ulrika U
Publication Date: 2017

Variant appearance in text: PAH: 1208C>T; Ala403Val
PubMed Link: 27469133
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: PAH: 1208C>T; A403V; rs5030857
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Plos One
Yubero, Dèlia D; Brandi, Núria N; Ormazabal, Aida A; Garcia-Cazorla, Àngels À; Pérez-Dueñas, Belén B; Campistol, Jaime J; Ribes, Antonia A; Palau, Francesc F; Artuch, Rafael R; Armstrong, Judith J; ,
Publication Date: 2016

Variant appearance in text: PAH: Ala403Val
PubMed Link: 27243974
Variant Present in the following documents:
  • pone.0156359.s002.xlsx, sheet 1
View BVdb publication page



Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

Bmc Medical Genomics
Gal, Moran M; Khermesh, Khen K; Barak, Michal M; Lin, Min M; Lahat, Hadas H; Reznik Wolf, Haike H; Lin, Michael M; Pras, Elon E; Levanon, Erez Y EY
Publication Date: 2016-05-13

Variant appearance in text: PAH: A403V
PubMed Link: 27175728
Variant Present in the following documents:
  • Main text
  • 12920_2016_Article_184.pdf
  • 12920_2016_184_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: PAH: A403V; rs5030857
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 11
View BVdb publication page



Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

Orphanet Journal Of Rare Diseases
Jeannesson-Thivisol, Elise E; Feillet, François F; Chéry, Céline C; Perrin, Pascal P; Battaglia-Hsu, Shyue-Fang SF; Herbeth, Bernard B; Cano, Aline A; Barth, Magalie M; Fouilhoux, Alain A; Mention, Karine K; Labarthe, François F; Arnoux, Jean-Baptiste JB; Maillot, François F; Lenaerts, Catherine C; Dumesnil, Cécile C; Wagner, Kathy K; Terral, Daniel D; Broué, Pierre P; de Parscau, Loïc L; Gay, Claire C; Kuster, Alice A; Bédu, Antoine A; Besson, Gérard G; Lamireau, Delphine D; Odent, Sylvie S; Masurel, Alice A; Guéant, Jean-Louis JL; Namour, Fares F
Publication Date: 2015-12-15

Variant appearance in text: PAH: Ala403Val
PubMed Link: 26666653
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_375.pdf
View BVdb publication page