RYR1 c.13990T>C ;(p.C4664R)

Variant ID: 19-39062902-T-C

NM_000540.2(RYR1):c.13990T>C;(p.C4664R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Hypermetabolism in B-lymphocytes from malignant hyperthermia susceptible individuals.

Scientific Reports
Hoppe, Kerstin K; Hack, Guido G; Lehmann-Horn, Frank F; Jurkat-Rott, Karin K; Wearing, Scott S; Zullo, Alberto A; Carsana, Antonella A; Klingler, Werner W
Publication Date: 2016-09-20

Variant appearance in text: MHS: Cys4664Arg
PubMed Link: 27646467
Variant Present in the following documents:
  • Main text
  • srep33372.pdf
View BVdb publication page



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: 13990T>C
PubMed Link: 24433488
Variant Present in the following documents:
  • Main text
  • 1750-1172-9-8.pdf
View BVdb publication page