SCN1A c.1588A>T ;(p.R530W)

Variant ID: 2-166901627-T-A

NM_001165963.1(SCN1A):c.1588A>T;(p.R530W)

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:

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06

Variant appearance in text: Nav1.1: R530W
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page