PGAP3 c.320C>T ;(p.S107L)

Variant ID: 17-37840962-G-A

NM_033419.3(PGAP3):c.320C>T;(p.S107L)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Human Molecular Genetics
Wilson, Kate K; Newbury, Dianne F DF; Kini, Usha U
Publication Date: 2023-04-03

Variant appearance in text: PGAP3: 320C>T; Ser107Leu
PubMed Link: 37010288
Variant Present in the following documents:
  • supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx, sheet 5
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A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma.

Cureus
Alhaidari, Abdulmajeed I AI; Albakri, Amani S AS; Alhumaidi, Suzan S SS
Publication Date: 2022-09

Variant appearance in text: PGAP3: 320C>T
PubMed Link: 36304370
Variant Present in the following documents:
  • cureus-0014-00000029387.pdf
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: PGAP3: S107L; rs202146344
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.

Orphanet Journal Of Rare Diseases
Wu, Tenghui T; Yin, Fei F; Guang, Shiqi S; He, Fang F; Yang, Li L; Peng, Jing J
Publication Date: 2020-05-28

Variant appearance in text: PGAP3: 320C>T
PubMed Link: 32466763
Variant Present in the following documents:
  • 13023_2020_1401_MOESM1_ESM.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: PGAP3: 320C>T
PubMed Link: 31164752
Variant Present in the following documents:
  • 41436_2019_566_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.

Human Genome Variation
Sakaguchi, Tomohiro T; Žigman, Tamara T; Petković Ramadža, Danijela D; Omerza, Lana L; Pušeljić, Silvija S; Ereš Hrvaćanin, Zrinka Z; Miyake, Noriko N; Matsumoto, Naomichi N; Barić, Ivo I
Publication Date: 2018

Variant appearance in text: PGAP3: 320C>T; Ser107Leu
PubMed Link: 29531774
Variant Present in the following documents:
  • hgv20185-s1.xlsx, sheet 1
View BVdb publication page



Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

European Journal Of Human Genetics : Ejhg
Pagnamenta, Alistair T AT; Murakami, Yoshiko Y; Taylor, John M JM; Anzilotti, Consuelo C; Howard, Malcolm F MF; Miller, Venessa V; Johnson, Diana S DS; Tadros, Shereen S; Mansour, Sahar S; Temple, I Karen IK; Firth, Rachel R; Rosser, Elisabeth E; Harrison, Rachel E RE; Kerr, Bronwen B; Popitsch, Niko N; , ; Kinoshita, Taroh T; Taylor, Jenny C JC; Kini, Usha U
Publication Date: 2017-06

Variant appearance in text: PGAP3: 320C>T; S107L
PubMed Link: 28327575
Variant Present in the following documents:
  • Main text
  • ejhg201732a.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: PGAP3: 320C>T; S107L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

Human Mutation
Knaus, Alexej A; Awaya, Tomonari T; Helbig, Ingo I; Afawi, Zaid Z; Pendziwiat, Manuela M; Abu-Rachma, Jubran J; Thompson, Miles D MD; Cole, David E DE; Skinner, Steve S; Annese, Fran F; Canham, Natalie N; Schweiger, Michal R MR; Robinson, Peter N PN; Mundlos, Stefan S; Kinoshita, Taroh T; Munnich, Arnold A; Murakami, Yoshiko Y; Horn, Denise D; Krawitz, Peter M PM
Publication Date: 2016-08

Variant appearance in text: PGAP3: 320C>T; Ser107Leu
PubMed Link: 27120253
Variant Present in the following documents:
  • Main text
  • HUMU-37-737.pdf
  • HUMU-37-737-s001.pdf
View BVdb publication page