RYR1 c.11653C>T ;(p.R3885*)

Variant ID: 19-39028564-C-T

NM_000540.2(RYR1):c.11653C>T;(p.R3885*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Vanden Abeele, Fabien F; Lotteau, Sabine S; Ducreux, Sylvie S; Dubois, Charlotte C; Monnier, Nicole N; Hanna, Amy A; Gkika, Dimitra D; Romestaing, Caroline C; Noyer, Lucile L; Flourakis, Matthieu M; Tessier, Nolwenn N; Al-Mawla, Ribal R; Chouabe, Christophe C; Lefai, Etienne E; Lunardi, Joël J; Hamilton, Susan S; Fauré, Julien J; Van Coppenolle, Fabien F; Prevarskaya, Natalia N
Publication Date: 2019-02

Variant appearance in text: RYR1: 11653C>T
PubMed Link: 29930394
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_66.pdf
View BVdb publication page