RYR1 c.647_648delinsAG ;(p.G216E)

Variant ID: 19-38937127-GT-AG

NM_000540.2(RYR1):c.647_648delinsAG;(p.G216E)

This variant was identified in 1 publication

View GRCh38 version.




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: G216E
PubMed Link: 23422674
Variant Present in the following documents:
  • Main text
  • ncomms2501-s1.pdf
  • ncomms2501.pdf
View BVdb publication page