Bibliome.ai browser hg19
Search
About
Stats
FAQ
RYR1 c.1640T>C ;(p.V547A)
Variant ID: 19-38946154-T-C
NM_000540.2(
RYR1
):c.1640T>C;(p.V547A)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Whole-exome sequencing in clear cell sarcoma of soft tissue uncovers novel prognostic categorization and drug targets.
Clinical And Translational Medicine
Li, Jingjing J; Chen, Chao C; Liu, Wei W; Liu, Songming S; Hu, Wanming W; Gao, Xiaoyan X; Liu, Geng G; Li, Dandan D; Ding, Ya Y; Wen, Xizhi X; Zhang, Xiuqing X; Hou, Yong Y; Zhang, Xing X; Li, Bo B; Zhang, Xiaoshi X; Zhang, Xi X
Publication Date: 2021-12
Variant appearance in text: RYR1: V547A
PubMed Link:
34923763
Variant Present in the following documents:
CTM2-11-e640-s002.xlsx, sheet 1
View BVdb publication page
Translating Pharmacogenetics and Pharmacogenomics to the Clinic: Progress in Human and Veterinary Medicine.
Frontiers In Veterinary Science
Campion, Deirdre P DP; Dowell, Fiona J FJ
Publication Date: 2019
Variant appearance in text: RYR1: V547A
PubMed Link:
30854372
Variant Present in the following documents:
Main text
View BVdb publication page
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.
American Journal Of Human Genetics
Sambuughin, N N; McWilliams, S S; de Bantel, A A; Sivakumar, K K; Nelson, T E TE
Publication Date: 2001-07
Variant appearance in text: RYR1: Val547Ala
PubMed Link:
11389482
Variant Present in the following documents:
Main text
View BVdb publication page