RYR1 c.12970_12971insGGAGGCTTA ;(p.R4321_L4323dup)

Variant ID: 19-39055938-C-CGGCTTAGGA

NM_000540.2(RYR1):c.12970_12971insGGAGGCTTA;(p.R4321_L4323dup)

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:

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine
Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C
Publication Date: 2022-02-18

Variant appearance in text: RYR1: Leu4323_Thr4324insArgArgLeu
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page