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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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