RYR1 c.2919C>T ;(p.H973=)

Variant ID: 19-38956779-C-T

NM_000540.2(RYR1):c.2919C>T;(p.H973=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.

Pharmacogenomics
Isackson, Paul J PJ; Wang, Jianxin J; Zia, Mohammad M; Spurgeon, Paul P; Levesque, Adrian A; Bard, Jonathan J; James, Smitha S; Nowak, Norma N; Lee, Tae Keun TK; Vladutiu, Georgirene D GD
Publication Date: 2018-11

Variant appearance in text: RYR1: H973H
PubMed Link: 30325262
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: RYR1: 2919C>T; His973=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page