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RYR1 c.7027G>A ;(p.G2343S)
Variant ID: 19-38989883-G-A
NM_000540.2(
RYR1
):c.7027G>A;(p.G2343S)
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:
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Genes
Cotta, Ana A; Souza, Lucas Santos LS; Carvalho, Elmano E; Feitosa, Leticia Nogueira LN; Cunha, Antonio A; Navarro, Monica Machado MM; Valicek, Jaquelin J; Menezes, Miriam Melo MM; Neves, Simone Vilela Nunes SVN; Xavier-Neto, Rafael R; Vargas, Antonio Pedro AP; Takata, Reinaldo Issao RI; Paim, Julia Filardi JF; Vainzof, Mariz M
Publication Date: 2022-04-26
Variant appearance in text: RYR1: 7027G>A
PubMed Link:
35627144
Variant Present in the following documents:
Main text
genes-13-00760.pdf
View BVdb publication page
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: 7027G>A; Gly2343Ser; rs536596969
PubMed Link:
35181665
Variant Present in the following documents:
41525_2022_283_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page