RYR1 c.500A>G ;(p.D167G)

Variant ID: 19-38934864-A-G

NM_000540.2(RYR1):c.500A>G;(p.D167G)

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:

Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface.

Nature Communications
Kimlicka, Lynn L; Lau, Kelvin K; Tung, Ching-Chieh CC; Van Petegem, Filip F
Publication Date: 2013

Variant appearance in text: RYR1: D167G
PubMed Link: 23422674
Variant Present in the following documents:
  • Main text
View BVdb publication page