SCN4A c.4787T>G ;(p.I1596S)

Variant ID: 17-62018855-A-C

NM_000334.4(SCN4A):c.4787T>G;(p.I1596S)

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: HYPP: I1596S
PubMed Link: 28150151
Variant Present in the following documents:
  • Main text
View BVdb publication page