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PRRT2 c.133_136del ;(p.P45Rfs*44)
Variant ID: 16-29824503-ACCAG-A
NM_145239.2(
PRRT2
):c.133_136del;(p.P45Rfs*44)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.
Bmc Neurology
Yang, Xiaoling X; Zhang, Yuehua Y; Xu, Xiaojing X; Wang, Shuang S; Yang, Zhixian Z; Wu, Ye Y; Liu, Xiaoyan X; Wu, Xiru X
Publication Date: 2013-12-26
Variant appearance in text: ICCA: 133_136delCCAG
PubMed Link:
24370076
Variant Present in the following documents:
1471-2377-13-209-S2.xlsx, sheet 1
View BVdb publication page
PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia.
Cns Neuroscience & Therapeutics
Li, Hong-Fu HF; Ni, Wang W; Xiong, Zhi-Qi ZQ; Xu, Jianfeng J; Wu, Zhi-Ying ZY
Publication Date: 2013-01
Variant appearance in text: PRRT2: 133_136delCCAG; Pro45Argfs*44
PubMed Link:
23176561
Variant Present in the following documents:
Main text
View BVdb publication page