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.




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