RYR1 c.7291G>T ;(p.D2431Y)

Variant ID: 19-38990624-G-T

NM_000540.2(RYR1):c.7291G>T;(p.D2431Y)

This variant was identified in 1 publication

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: 7291G>T; Asp2431Tyr
PubMed Link: 30236257
Variant Present in the following documents:
  • Main text
View BVdb publication page