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