GLA c.511G>T ;(p.G171C)

Variant ID: X-100656656-C-A

NM_000169.2(GLA):c.511G>T;(p.G171C)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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: G171C
PubMed Link: 24386359
Variant Present in the following documents:
  • Main text
  • pone.0084267.pdf
View BVdb publication page