RYR1 c.1982G>A ;(p.W661*)

Variant ID: 19-38948747-G-A

NM_000540.2(RYR1):c.1982G>A;(p.W661*)

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 Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

Journal Of Neuropathology And Experimental Neurology
Helbling, Daniel C DC; Mendoza, David D; McCarrier, Julie J; Vanden Avond, Mark A MA; Harmelink, Matthew M MM; Barkhaus, Paul E PE; Basel, Donald D; Lawlor, Michael W MW
Publication Date: 2019-03-01

Variant appearance in text: RYR1: 1982G>A
PubMed Link: 30715496
Variant Present in the following documents:
  • Main text
View BVdb publication page