SCN5A c.4466A>C ;(p.E1489A)

Variant ID: 3-38597220-T-G

NM_000335.4(SCN5A):c.4466A>C;(p.E1489A)

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:

Seeing the forest through the trees: towards a unified view on physiological calcium regulation of voltage-gated sodium channels.

Biophysical Journal
Van Petegem, Filip F; Lobo, Paolo A PA; Ahern, Christopher A CA
Publication Date: 2012-12-05

Variant appearance in text: LQT3: E1489A
PubMed Link: 23283222
Variant Present in the following documents:
  • Main text
View BVdb publication page