PRRT2 c.742_743delinsTT ;(p.S248F)

Variant ID: 16-29825117-AG-TT

NM_145239.2(PRRT2):c.742_743delinsTT;(p.S248F)

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:

Cholinergic Signaling, Neural Excitability, and Epilepsy.

Molecules (Basel, Switzerland)
Wang, Yu Y; Tan, Bei B; Wang, Yi Y; Chen, Zhong Z
Publication Date: 2021-04-13

Variant appearance in text: PKC: S248F
PubMed Link: 33924731
Variant Present in the following documents:
  • Main text
View BVdb publication page