Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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