GLA c.278A>G ;(p.D93G)

Variant ID: X-100658890-T-C

NM_000169.2(GLA):c.278A>G;(p.D93G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: D93G
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
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: D93G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



The CDC Hemophilia B mutation project mutation list: a new online resource.

Molecular Genetics & Genomic Medicine
Li, Tengguo T; Miller, Connie H CH; Payne, Amanda B AB; Craig Hooper, W W
Publication Date: 2013-11

Variant appearance in text: GLA: 278A>G; Asp93Gly
PubMed Link: 24498619
Variant Present in the following documents:
  • mgg30001-0238-SD1.xlsx, sheet 2
View BVdb publication page



Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One
Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H
Publication Date: 2013

Variant appearance in text: GLA: D93G
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page