PRRT2 c.650_670delinsCAATGGTGCCACCACTGGGTTA ;(p.R217Pfs*8)

Variant ID: 16-29825025-GAGTGCTGCAGCAGCTGGTTG-CAATGGTGCCACCACTGGGTTA

NM_145239.2(PRRT2):c.650_670delinsCAATGGTGCCACCACTGGGTTA;(p.R217Pfs*8)

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 PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.

Behavioural Neurology
Baldi, Salem S; Zhu, Jin-Ling JL; Hu, Qing-Yun QY; Wang, Ju-Li JL; Zhang, Jin-Bo JB; Zhang, Shu-Hong SH
Publication Date: 2020

Variant appearance in text: PRRT2: 650_670delinsCAATGGTGCCACCACTGGGTTA; Arg217Profs
PubMed Link: 32509037
Variant Present in the following documents:
  • Main text
View BVdb publication page