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GAA c.1509G>C ;(p.V503=)
Variant ID: 17-78084597-G-C
NM_000152.3(
GAA
):c.1509G>C;(p.V503=)
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:
HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.
Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22
Variant appearance in text: GAA: V503V
PubMed Link:
37087497
Variant Present in the following documents:
42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
American Journal Of Human Genetics
Sharon, Dror D; Sandberg, Michael A MA; Rabe, Vivian W VW; Stillberger, Melissa M; Dryja, Thaddeus P TP; Berson, Eliot L EL
Publication Date: 2003-11
Variant appearance in text: GAA: Val503Val
PubMed Link:
14564670
Variant Present in the following documents:
Main text
View BVdb publication page