PRRT2 c.324_334del ;(p.V109Rfs*21)

Variant ID: 16-29824694-GAAACAGTGTCC-G

NM_145239.2(PRRT2):c.324_334del;(p.V109Rfs*21)

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:

Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families.

Experimental And Therapeutic Medicine
He, Jialinzi J; Tang, Haiyun H; Liu, Chaorong C; Tan, Langzi L; Xiao, Wenbiao W; Xiao, Bo B; Long, Hongyu H; Long, Lili L
Publication Date: 2021-05

Variant appearance in text: PRRT2: 324_334delAGTGTCCAAAC; Val109Argfs*21
PubMed Link: 33791013
Variant Present in the following documents:
  • Main text
  • etm-21-05-09935.pdf
View BVdb publication page