RYR1 c.12960_12968del ;(p.R4321_L4323del)

Variant ID: 19-39055923-GTGCGGCGGC-G

NM_000540.2(RYR1):c.12960_12968del;(p.R4321_L4323del)

This variant was identified in 2 publications

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: 12960_12968delGCGGCGGCT; Arg4321_Leu4323del
PubMed Link: 35181665
Variant Present in the following documents:
  • 41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page


Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing.

Molecular Genetics & Genomic Medicine
Carnevale, Alessandra A; Rosas-Madrigal, Sandra S; Rosendo-Gutiérrez, Rigoberto R; López-Mora, Enrique E; Romero-Hidalgo, Sandra S; Avila-Vazzini, Nydia N; Jacobo-Albavera, Leonor L; Domínguez-Pérez, Mayra M; Vargas-Alarcón, Gilberto G; Pérez-Villatoro, Fernando F; Navarrete-Martínez, Juana Inés JI; Villarreal-Molina, María Teresa MT
Publication Date: 2020-11

Variant appearance in text: RYR1: 12950_12958del; R4321_L4323del
PubMed Link: 32969603
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1504.pdf
View BVdb publication page