GLA c.1202C>A ;(p.S401*)

Variant ID: X-100652885-G-T

NM_000169.2(GLA):c.1202C>A;(p.S401*)

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:

Pathologic substrate of gastropathy in Anderson-Fabry disease.

Orphanet Journal Of Rare Diseases
Di Toro, Alessandro A; Narula, Nupoor N; Giuliani, Lorenzo L; Concardi, Monica M; Smirnova, Alexandra A; Favalli, Valentina V; Urtis, Mario M; Alvisi, Costanza C; Antoniazzi, Elena E; Arbustini, Eloisa E
Publication Date: 2020-06-22

Variant appearance in text: GLA: Ser401*
PubMed Link: 32571412
Variant Present in the following documents:
  • Main text
  • 13023_2020_Article_1436.pdf
View BVdb publication page