PRRT2 c.880_881delinsCT ;(p.S294L)

Variant ID: 16-29825654-TC-CT

NM_145239.2(PRRT2):c.880_881delinsCT;(p.S294L)

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:

Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family.

Bmc Medical Genetics
Weber, Axel A; Kreth, Jonas J; Müller, Ulrich U
Publication Date: 2016-03-03

Variant appearance in text: PRRT2: S294L
PubMed Link: 26936445
Variant Present in the following documents:
  • Main text
View BVdb publication page