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RYR1 c.6670C>T ;(p.R2224C)
Variant ID: 19-38987055-C-T
NM_000540.2(
RYR1
):c.6670C>T;(p.R2224C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method.
Global Medical Genetics
Eker, Damla D; Gurkan, Hakan H; Karal, Yasemin Y; Yalcintepe, Sinem S; Demir, Selma S; Atli, Engin E; Karasalihoglu, Serap T ST
Publication Date: 2022-09
Variant appearance in text: RYR1: Arg2224Cys; rs199870223
PubMed Link:
35846108
Variant Present in the following documents:
Main text
10-1055-s-0042-1745873.pdf
View BVdb publication page
Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals.
British Journal Of Anaesthesia
Chang, Leon L; Daly, Catherine C; Miller, Dorota M DM; Allen, Paul D PD; Boyle, John P JP; Hopkins, Philip M PM; Shaw, Marie-Anne MA
Publication Date: 2019-05
Variant appearance in text: RYR1: 6670C>T; rs199870223
PubMed Link:
30916033
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic variation in human drug-related genes.
Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22
Variant appearance in text: rs199870223
PubMed Link:
29273096
Variant Present in the following documents:
13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page