RYR1 c.9658A>G ;(p.T3220A)

Variant ID: 19-39006830-A-G

NM_000540.2(RYR1):c.9658A>G;(p.T3220A)

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:

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Neurology. Genetics
Tian, Xia X; Liang, Wen-Chen WC; Feng, Yanming Y; Wang, Jing J; Zhang, Victor Wei VW; Chou, Chih-Hung CH; Huang, Hsien-Da HD; Lam, Ching Wan CW; Hsu, Ya-Yun YY; Lin, Thy-Sheng TS; Chen, Wan-Tzu WT; Wong, Lee-Jun LJ; Jong, Yuh-Jyh YJ
Publication Date: 2015-08

Variant appearance in text: RYR1: 9658A>G; Thr3220Ala
PubMed Link: 27066551
Variant Present in the following documents:
  • Main text
  • NG2015000224.pdf
View BVdb publication page