RYR1 c.14687G>T ;(p.G4896V)

Variant ID: 19-39075623-G-T

NM_000540.2(RYR1):c.14687G>T;(p.G4896V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Malignant hyperthermia: a review.

Orphanet Journal Of Rare Diseases
Rosenberg, Henry H; Pollock, Neil N; Schiemann, Anja A; Bulger, Terasa T; Stowell, Kathryn K
Publication Date: 2015-08-04

Variant appearance in text: RYR1: G4896V
PubMed Link: 26238698
Variant Present in the following documents:
  • 13023_2015_Article_310.pdf
View BVdb publication page



Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.

Plos One
Lefebvre, Romain R; Legrand, Claude C; Groom, Linda L; Dirksen, Robert T RT; Jacquemond, Vincent V
Publication Date: 2013

Variant appearance in text: RYR1: G4896V
PubMed Link: 23308296
Variant Present in the following documents:
  • Main text
  • pone.0054042.pdf
View BVdb publication page