RYR1 c.1566T>C ;(p.Y522=)

Variant ID: 19-38946000-T-C

NM_000540.2(RYR1):c.1566T>C;(p.Y522=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: RYR1: 1566T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Yuen, Benjamin B; Boncompagni, Simona S; Feng, Wei W; Yang, Tianzhong T; Lopez, Jose R JR; Matthaei, Klaus I KI; Goth, Samuel R SR; Protasi, Feliciano F; Franzini-Armstrong, Clara C; Allen, Paul D PD; Pessah, Isaac N IN
Publication Date: 2012-03

Variant appearance in text: MHS: Y522Y
PubMed Link: 22131268
Variant Present in the following documents:
  • Main text
View BVdb publication page