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GLA c.634C>T ;(p.Q212*)
Variant ID: X-100655659-G-A
NM_000169.2(
GLA
):c.634C>T;(p.Q212*)
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:
Fabry disease.
Orphanet Journal Of Rare Diseases
Germain, Dominique P DP
Publication Date: 2010-11-22
Variant appearance in text: GLA: 634C>T
PubMed Link:
21092187
Variant Present in the following documents:
Main text
1750-1172-5-30.pdf
View BVdb publication page