RYR1 c.2239C>T ;(p.L747=)

Variant ID: 19-38949857-C-T

NM_000540.2(RYR1):c.2239C>T;(p.L747=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: RYR1: L747L
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



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: L747L
PubMed Link: 30325262
Variant Present in the following documents:
  • Main text
View BVdb publication page