GLA c.946G>A ;(p.V316I)

Variant ID: X-100653411-C-T

NM_000169.2(GLA):c.946G>A;(p.V316I)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Lessons learnt from prenatal exome sequencing.

Prenatal Diagnosis
Chandler, Natalie J NJ; Scotchman, Elizabeth E; Mellis, Rhiannon R; Ramachandran, Vijaya V; Roberts, Rowenna R; Chitty, Lyn S LS
Publication Date: 2022-06

Variant appearance in text: GLA: Val316Ile
PubMed Link: 35506549
Variant Present in the following documents:
  • Main text
  • PD-42-831.pdf
View BVdb publication page



Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.

Current Issues In Molecular Biology
Maruyama, Hiroki H; Taguchi, Atsumi A; Mikame, Mariko M; Izawa, Atsushi A; Morito, Naoki N; Izaki, Kazufumi K; Seto, Toshiyuki T; Onishi, Akifumi A; Sugiyama, Hitoshi H; Sakai, Norio N; Yamabe, Kenji K; Yokoyama, Yukio Y; Yamashita, Satoshi S; Satoh, Hiroshi H; Toyoda, Shigeru S; Hosojima, Michihiro M; Ito, Yumi Y; Tazawa, Ryushi R; Ishii, Satoshi S
Publication Date: 2021-06-19

Variant appearance in text: GLA: Val316Ile
PubMed Link: 34205365
Variant Present in the following documents:
  • Main text
  • cimb-43-00032.pdf
View BVdb publication page



In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development
Lenders, Malte M; Stappers, Franciska F; Brand, Eva E
Publication Date: 2020-12-11

Variant appearance in text: GLA: V316I
PubMed Link: 32995357
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences
Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A
Publication Date: 2020-01-31

Variant appearance in text: GLA: 946G>A; V316I
PubMed Link: 32023956
Variant Present in the following documents:
  • Main text
  • ijms-21-00956.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: V316I
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wasserstein, Melissa P MP; Caggana, Michele M; Bailey, Sean M SM; Desnick, Robert J RJ; Edelmann, Lisa L; Estrella, Lissette L; Holzman, Ian I; Kelly, Nicole R NR; Kornreich, Ruth R; Kupchik, S Gabriel SG; Martin, Monica M; Nafday, Suhas M SM; Wasserman, Randi R; Yang, Amy A; Yu, Chunli C; Orsini, Joseph J JJ
Publication Date: 2019-03

Variant appearance in text: GLA: 946G>A
PubMed Link: 30093709
Variant Present in the following documents:
  • Main text
  • nihms-1505461.pdf
View BVdb publication page



Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

Plos Genetics
Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A
Publication Date: 2013

Variant appearance in text: GLA: V316I
PubMed Link: 23935525
Variant Present in the following documents:
  • Main text
  • pgen.1003632.pdf
View BVdb publication page