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RYR1 c.4639C>T ;(p.L1547=)
Variant ID: 19-38973685-C-T
NM_000540.2(
RYR1
):c.4639C>T;(p.L1547=)
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: 4639C>T
PubMed Link:
27066551
Variant Present in the following documents:
Main text
View BVdb publication page