RYR1 c.178G>T ;(p.D60Y)

Variant ID: 19-38933001-G-T

NM_000540.2(RYR1):c.178G>T;(p.D60Y)

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:

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Orphanet Journal Of Rare Diseases
Klingler, Werner W; Heiderich, Sebastian S; Girard, Thierry T; Gravino, Elvira E; Heffron, James Ja JJ; Johannsen, Stephan S; Jurkat-Rott, Karin K; Rüffert, Henrik H; Schuster, Frank F; Snoeck, Marc M; Sorrentino, Vincenzo V; Tegazzin, Vincenzo V; Lehmann-Horn, Frank F
Publication Date: 2014-01-16

Variant appearance in text: MHS: 178G>T
PubMed Link: 24433488
Variant Present in the following documents:
  • Main text
  • 1750-1172-9-8.pdf
View BVdb publication page