GLA c.982G>T ;(p.G328W)

GLA c.982G>T ;(p.G328W)

Variant ID: X-100653375-C-A

NM_000169.2(GLA):c.982G>T;(p.G328W)

This variant was identified in 2 publications

View GRCh38 version.

Variant-Specific Resource Links:

gnomAD v2.1.1

Mutalizer Name Checker

Google

UCSC Genome Browser

ClinVar

dbSNP

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: G328W

PubMed Link: 31819097

Variant Present in the following documents:

41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Fabry disease.

Orphanet Journal Of Rare Diseases

Germain, Dominique P DP

Publication Date: 2010-11-22

Variant appearance in text: GLA: Gly328Trp

PubMed Link: 21092187

Variant Present in the following documents:

Main text

1750-1172-5-30.pdf

View BVdb publication page