RYR1 c.7355G>C ;(p.R2452P)

Variant ID: 19-38991277-G-C

NM_000540.2(RYR1):c.7355G>C;(p.R2452P)

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:

Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.

Scientific Reports
Hoppe, Kerstin K; Jurkat-Rott, Karin K; Kranepuhl, Stefanie S; Wearing, Scott S; Heiderich, Sebastian S; Merlak, Sonja S; Klingler, Werner W
Publication Date: 2021-02-09

Variant appearance in text: MHS: R2452P
PubMed Link: 33564012
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_82024.pdf
View BVdb publication page