RYR1 c.13617C>T ;(p.G4539=)

Variant ID: 19-39058515-C-T

NM_000540.2(RYR1):c.13617C>T;(p.G4539=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One
Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y
Publication Date: 2022

Variant appearance in text: RYR1: 13617C>T; Gly4539=; rs2302296
PubMed Link: 35486589
Variant Present in the following documents:
  • pone.0267751.s001.xls, sheet 1
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs2302296
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
View BVdb publication page