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.




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