RYR1 c.14500A>T ;(p.N4834Y)

Variant ID: 19-39070757-A-T

NM_000540.2(RYR1):c.14500A>T;(p.N4834Y)

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:

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: 14500A>T
PubMed Link: 35627144
Variant Present in the following documents:
  • Main text
  • genes-13-00760.pdf
View BVdb publication page