GLA c.401A>C ;(p.Y134S)

Variant ID: X-100656766-T-G

NM_000169.2(GLA):c.401A>C;(p.Y134S)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Lentivirus-mediated gene therapy for Fabry disease.

Nature Communications
Khan, Aneal A; Barber, Dwayne L DL; Huang, Ju J; Rupar, C Anthony CA; Rip, Jack W JW; Auray-Blais, Christiane C; Boutin, Michel M; O'Hoski, Pamela P; Gargulak, Kristy K; McKillop, William M WM; Fraser, Graeme G; Wasim, Syed S; LeMoine, Kaye K; Jelinski, Shelly S; Chaudhry, Ahsan A; Prokopishyn, Nicole N; Morel, Chantal F CF; Couban, Stephen S; Duggan, Peter R PR; Fowler, Daniel H DH; Keating, Armand A; West, Michael L ML; Foley, Ronan R; Medin, Jeffrey A JA
Publication Date: 2021-02-25

Variant appearance in text: GLA: Tyr134Ser
PubMed Link: 33633114
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_21371.pdf
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: GLA: Y134S
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Elevated Inflammatory Plasma Biomarkers in Patients With Fabry Disease: A Critical Link to Heart Failure With Preserved Ejection Fraction.

Journal Of The American Heart Association
Yogasundaram, Haran H; Nikhanj, Anish A; Putko, Brendan N BN; Boutin, Michel M; Jain-Ghai, Shailly S; Khan, Aneal A; Auray-Blais, Christiane C; West, Michael L ML; Oudit, Gavin Y GY
Publication Date: 2018-11-06

Variant appearance in text: GLA: Y134S
PubMed Link: 30571380
Variant Present in the following documents:
  • Main text
  • JAH3-7-e009098.pdf
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: GLA: Y134S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page