RYR1 c.620_621delinsAA ;(p.R207Q)

Variant ID: 19-38935306-GC-AA

NM_000540.2(RYR1):c.620_621delinsAA;(p.R207Q)

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:

Ion Channels Controlling Circadian Rhythms in Suprachiasmatic Nucleus Excitability.

Physiological Reviews
Harvey, Jenna R M JRM; Plante, Amber E AE; Meredith, Andrea L AL
Publication Date: 2020-10-01

Variant appearance in text: RYR1: R207Q
PubMed Link: 32163720
Variant Present in the following documents:
  • Main text
View BVdb publication page