PRRT2 c.955G>T ;(p.V319L)

Variant ID: 16-29825729-G-T

NM_145239.2(PRRT2):c.955G>T;(p.V319L)

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:

Novel mutation of the PRRT2 gene in two cases of paroxysmal kinesigenic dyskinesia: Two case reports.

Biomedical Reports
Fang, Jiajia J; Wang, Shige S; Zhao, Guohua G; Cao, Li L
Publication Date: 2020-06

Variant appearance in text: PRRT2: 955G>T; Val319Leu
PubMed Link: 32346475
Variant Present in the following documents:
  • Main text
  • br-12-06-0309.pdf
View BVdb publication page