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