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RYR1 c.2045G>C ;(p.R682P)
Variant ID: 19-38948810-G-C
NM_000540.2(
RYR1
):c.2045G>C;(p.R682P)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Severe congenital RYR1-associated myopathy complicated with atrial tachycardia and sinus node dysfunction: a case report.
Italian Journal Of Pediatrics
Hayakawa, Itaru I; Abe, Yuichi Y; Ono, Hiroshi H; Kubota, Masaya M
Publication Date: 2019-12-19
Variant appearance in text: RYR1: R682P
PubMed Link:
31856875
Variant Present in the following documents:
Main text
13052_2019_Article_756.pdf
View BVdb publication page