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PRRT2 c.787C>T ;(p.Q263*)
Variant ID: 16-29825162-C-T
NM_145239.2(
PRRT2
):c.787C>T;(p.Q263*)
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: Q263X
PubMed Link:
30713971
Variant Present in the following documents:
Main text
View BVdb publication page