PRRT2 c.381G>A ;(p.E127=)

Variant ID: 16-29824756-G-A

NM_145239.2(PRRT2):c.381G>A;(p.E127=)

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:

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

Plos One
Huguet, Guillaume G; Nava, Caroline C; Lemière, Nathalie N; Patin, Etienne E; Laval, Guillaume G; Ey, Elodie E; Brice, Alexis A; Leboyer, Marion M; Szepetowski, Pierre P; Gillberg, Christopher C; Depienne, Christel C; Delorme, Richard R; Bourgeron, Thomas T
Publication Date: 2014

Variant appearance in text: PRRT2: E127E
PubMed Link: 24594579
Variant Present in the following documents:
  • Main text
  • pone.0088600.pdf
View BVdb publication page