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RYR1 c.6785G>A ;(p.G2262D)
Variant ID: 19-38987170-G-A
NM_000540.2(
RYR1
):c.6785G>A;(p.G2262D)
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:
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: 6785G>A
PubMed Link:
30916033
Variant Present in the following documents:
Main text
View BVdb publication page
Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.
Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; BrĂ¼nner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10
Variant appearance in text: RYR1: 6785G>A; G2262D
PubMed Link:
29127303
Variant Present in the following documents:
41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page