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PRRT2 c.369dup ;(p.S124Vfs*10)
Variant ID: 16-29824740-A-AG
NM_145239.2(
PRRT2
):c.369dup;(p.S124Vfs*10)
This variant was identified in 3 publications
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: S124Vfs
PubMed Link:
30713971
Variant Present in the following documents:
Main text
View BVdb publication page
The use of next-generation sequencing in movement disorders.
Frontiers In Genetics
Krebs, Catharine E CE; Paisán-Ruiz, Coro C
Publication Date: 2012
Variant appearance in text: PRRT2: 369dupG
PubMed Link:
22593763
Variant Present in the following documents:
Main text
View BVdb publication page
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: 369dupG
PubMed Link:
22131361
Variant Present in the following documents:
Main text
jmedgenet-2011-100635.pdf
View BVdb publication page