RYR1 c.3166G>C ;(p.D1056H)

Variant ID: 19-38957026-G-C

NM_000540.2(RYR1):c.3166G>C;(p.D1056H)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic epidemiology of malignant hyperthermia in the UK.

British Journal Of Anaesthesia
Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM
Publication Date: 2018-10

Variant appearance in text: RYR1: 3166G>C; Asp1056His
PubMed Link: 30236257
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.

Anesthesiology
Kim, Jerry H JH; Jarvik, Gail P GP; Browning, Brian L BL; Rajagopalan, Ramakrishnan R; Gordon, Adam S AS; Rieder, Mark J MJ; Robertson, Peggy D PD; Nickerson, Deborah A DA; Fisher, Nickla A NA; Hopkins, Philip M PM
Publication Date: 2013-11

Variant appearance in text: RYR1: Asp1056His
PubMed Link: 24013571
Variant Present in the following documents:
  • Main text
View BVdb publication page