PAH c.1068C>G ;(p.Y356*)

Variant ID: 12-103237555-G-C

NM_000277.1(PAH):c.1068C>G;(p.Y356*)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.

Annals Of Laboratory Medicine
Kim, Man Jin MJ; Kim, Soo Yeon SY; Lee, Jin Sook JS; Kang, Sanggoo S; Park, Lae-Jeong LJ; Choi, Wooyong W; Jung, Ju Yeol JY; Kim, Taehyung T; Park, Sung Sup SS; Ko, Jung Min JM; Seong, Moon-Woo MW; Chae, Jong Hee JH
Publication Date: 2023-05-01

Variant appearance in text: PAH: 1068C>G; Tyr356*
PubMed Link: 36544340
Variant Present in the following documents:
  • alm-43-3-280.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: Y356X
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
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: 1068C>G; Tyr356*
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 3
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: 1068C>G; Tyr356Ter
PubMed Link: 31832098
Variant Present in the following documents:
  • 13039_2019_459_MOESM4_ESM.xlsx, sheet 1
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: 1068C>G; Tyr356Ter
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Bmc Medical Genetics
Wang, Wenjie W; Yang, Jianping J; Xue, Jinjie J; Mu, Wenjuan W; Zhang, Xiaogang X; Wu, Wang W; Xu, Mengnan M; Gong, Yuyan Y; Liu, Yiqian Y; Zhang, Yu Y; Xie, Xiaobing X; Gu, Weiyue W; Bai, Jigeng J; Cram, David S DS
Publication Date: 2019-01-06

Variant appearance in text: PAH: Y356X
PubMed Link: 30612563
Variant Present in the following documents:
  • Main text
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: Y356*
PubMed Link: 30050108
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_29640.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: PAH: 1068C>G; rs62516095
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.

Scientific Reports
Zhu, Tianwen T; Ye, Jun J; Han, Lianshu L; Qiu, Wenjuan W; Zhang, Huiwen H; Liang, Lili L; Gu, Xuefan X
Publication Date: 2017-07-28

Variant appearance in text: PAH: Tyr356*
PubMed Link: 28754886
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: 1068C>G; Tyr356Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Amino Acid Medical Foods Provide a High Dietary Acid Load and Increase Urinary Excretion of Renal Net Acid, Calcium, and Magnesium Compared with Glycomacropeptide Medical Foods in Phenylketonuria.

Journal Of Nutrition And Metabolism
Stroup, Bridget M BM; Sawin, Emily A EA; Murali, Sangita G SG; Binkley, Neil N; Hansen, Karen E KE; Ney, Denise M DM
Publication Date: 2017

Variant appearance in text: PAH: Y356X
PubMed Link: 28546877
Variant Present in the following documents:
  • Main text
  • JNME2017-1909101.pdf
View BVdb publication page



Metabolomic changes demonstrate reduced bioavailability of tyrosine and altered metabolism of tryptophan via the kynurenine pathway with ingestion of medical foods in phenylketonuria.

Molecular Genetics And Metabolism
Ney, Denise M DM; Murali, Sangita G SG; Stroup, Bridget M BM; Nair, Nivedita N; Sawin, Emily A EA; Rohr, Fran F; Levy, Harvey L HL
Publication Date: 2017-06

Variant appearance in text: PAH: Y356X
PubMed Link: 28400091
Variant Present in the following documents:
  • Main text
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: Y356X
PubMed Link: 27830119
Variant Present in the following documents:
  • Main text
View BVdb publication page



Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial.

The American Journal Of Clinical Nutrition
Ney, Denise M DM; Stroup, Bridget M BM; Clayton, Murray K MK; Murali, Sangita G SG; Rice, Gregory M GM; Rohr, Frances F; Levy, Harvey L HL
Publication Date: 2016-08

Variant appearance in text: PAH: Y356X
PubMed Link: 27413125
Variant Present in the following documents:
  • Main text
  • ajcn135293.pdf
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: Tyr356*
PubMed Link: 26666653
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_375.pdf
View BVdb publication page



Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.

Plos One
Gu, Ying Y; Lu, Kangmo K; Yang, Guanghui G; Cen, Zhong Z; Yu, Li L; Lin, Lin L; Hao, Jing J; Yang, Zhigang Z; Peng, Jiabao J; Cui, Shujian S; Huang, Jian J
Publication Date: 2014

Variant appearance in text: PAH: Y356X
PubMed Link: 24705691
Variant Present in the following documents:
  • pone.0094100.s009.xlsx, sheet 1
  • pone.0094100.s010.xlsx, sheet 1
View BVdb publication page



Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.

Genetics And Molecular Biology
Zhou, Yong-An YA; Ma, Yun-Xia YX; Zhang, Quan-Bin QB; Gao, Wei-Hua WH; Liu, Jian-Ping JP; Yang, Jian-Ping JP; Zhang, Gai-Xiu GX; Zhang, Xiao-Gang XG; Yu, Liang L
Publication Date: 2012-12

Variant appearance in text: PAH: Y356X
PubMed Link: 23271928
Variant Present in the following documents:
  • Main text
  • gmb-35-709.pdf
View BVdb publication page



Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.

Plos One
Poulsen, Lena L; Søe, Martin Jensen MJ; Møller, Lisbeth Birk LB; Dufva, Martin M
Publication Date: 2011-03-22

Variant appearance in text: PAH: 1068C>G; Y356X
PubMed Link: 21445337
Variant Present in the following documents:
  • Main text
  • pone.0014777.pdf
View BVdb publication page



Mutation analysis of PAH gene and characterization of a recurrent deletion mutation in Korean patients with phenylketonuria.

Experimental & Molecular Medicine
Lee, Yong Wha YW; Lee, Dong Hwan DH; Kim, Nam Doo ND; Lee, Seung Tae ST; Ahn, Jee Young JY; Choi, Tae Youn TY; Lee, You Kyoung YK; Kim, Sun Hee SH; Kim, Jong Won JW; Ki, Chang Seok CS
Publication Date: 2008-10-31

Variant appearance in text: PAH: Tyr356X
PubMed Link: 18985011
Variant Present in the following documents:
  • Main text
View BVdb publication page