RYR1 c.1265G>T ;(p.G422V)

Variant ID: 19-38943479-G-T

NM_000540.2(RYR1):c.1265G>T;(p.G422V)

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:

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.

Scientific Reports
Wang, Jing J; Xiang, Jiale J; Chen, Lisha L; Luo, Hongyu H; Xu, Xiuhua X; Li, Nan N; Cui, Chunming C; Xu, Jingjing J; Song, Nana N; Peng, Jiguang J; Peng, Zhiyu Z
Publication Date: 2021-02-17

Variant appearance in text: RYR1: 1265G>T; Gly422Val
PubMed Link: 33597575
Variant Present in the following documents:
  • 41598_2021_Article_83493.pdf
View BVdb publication page