RYR1 c.2286del ;(p.V763Cfs*121)

Variant ID: 19-38949900-GC-G

NM_000540.2(RYR1):c.2286del;(p.V763Cfs*121)

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:

Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.

Journal Of Clinical Medicine
Pauta, Montse M; Martinez-Portilla, Raigam Jafet RJ; Borrell, Antoni A
Publication Date: 2021-10-15

Variant appearance in text: RYR1: 2286del
PubMed Link: 34682862
Variant Present in the following documents:
  • Main text
View BVdb publication page