RYR1 c.6498C>A ;(p.L2166=)

Variant ID: 19-38985215-C-A

NM_000540.2(RYR1):c.6498C>A;(p.L2166=)

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: L2166L
PubMed Link: 30325262
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: RYR1: L2166L
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page