PRRT2 c.778G>T ;(p.E260*)

Variant ID: 16-29825153-G-T

NM_145239.2(PRRT2):c.778G>T;(p.E260*)

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:

A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia.

Movement Disorders Clinical Practice
Kita, Makoto M; Kuwata, Yasuhiro Y; Murase, Nagako N; Akiyama, Yuichi Y; Usui, Takeshi T
Publication Date: 2017

Variant appearance in text: PRRT2: E260X
PubMed Link: 30713971
Variant Present in the following documents:
  • Main text
View BVdb publication page