SCN1A c.1390G>C ;(p.A464P)

Variant ID: 2-166901825-C-G

NM_001165963.1(SCN1A):c.1390G>C;(p.A464P)

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:

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Plos One
Kwong, Anna Ka-Yee AK; Fung, Cheuk-Wing CW; Chan, Siu-Yuen SY; Wong, Virginia Chun-Nei VC
Publication Date: 2012

Variant appearance in text: SCN1A: A464P
PubMed Link: 22848613
Variant Present in the following documents:
  • Main text
  • pone.0041802.pdf
View BVdb publication page