PRRT2 c.644C>A ;(p.P215H)

Variant ID: 16-29825019-C-A

NM_145239.2(PRRT2):c.644C>A;(p.P215H)

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:

The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Brain : A Journal Of Neurology
Gardiner, Alice R AR; Jaffer, Fatima F; Dale, Russell C RC; Labrum, Robyn R; Erro, Roberto R; Meyer, Esther E; Xiromerisiou, Georgia G; Stamelou, Maria M; Walker, Matthew M; Kullmann, Dimitri D; Warner, Tom T; Jarman, Paul P; Hanna, Mike M; Kurian, Manju A MA; Bhatia, Kailash P KP; Houlden, Henry H
Publication Date: 2015-12

Variant appearance in text: ICCA: P215H
PubMed Link: 26598494
Variant Present in the following documents:
  • Main text
  • awv310.pdf
View BVdb publication page