RYR1 c.239T>C ;(p.M80T)

Variant ID: 19-38933062-T-C

NM_000540.2(RYR1):c.239T>C;(p.M80T)

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:

Molecular characterisation of rare loss-of-function NPAS3 and NPAS4 variants identified in individuals with neurodevelopmental disorders.

Scientific Reports
Rossi, Joseph J JJ; Rosenfeld, Jill A JA; Chan, Katie M KM; Streff, Haley H; Nankivell, Victoria V; Peet, Daniel J DJ; Whitelaw, Murray L ML; Bersten, David C DC
Publication Date: 2021-03-23

Variant appearance in text: RYR1: 239T>C
PubMed Link: 33758288
Variant Present in the following documents:
  • 41598_2021_86041_MOESM1_ESM.pdf
View BVdb publication page