PRRT2 c.1011_1012del ;(p.Y339*)

Variant ID: 16-29825783-GGC-G

NM_145239.2(PRRT2):c.1011_1012del;(p.Y339*)

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:

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.

Journal Of Medical Genetics
Li, Jingyun J; Zhu, Xilin X; Wang, Xin X; Sun, Wei W; Feng, Bing B; Du, Te T; Sun, Bei B; Niu, Fenghe F; Wei, Hua H; Wu, Xiaopan X; Dong, Lei L; Li, Liping L; Cai, Xingqiu X; Wang, Yuping Y; Liu, Ying Y
Publication Date: 2012-02

Variant appearance in text: PRRT2: 1011_1012delCG
PubMed Link: 22131361
Variant Present in the following documents:
  • Main text
  • jmedgenet-2011-100635.pdf
View BVdb publication page