RYR1 c.10119G>A ;(p.V3373=)

Variant ID: 19-39009954-G-A

NM_000540.2(RYR1):c.10119G>A;(p.V3373=)

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: V3373V
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: 10119G>A; Val3373=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page