SCN5A c.2523C>G ;(p.N841K)

Variant ID: 3-38627446-G-C

NM_000335.4(SCN5A):c.2523C>G;(p.N841K)

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:

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Bmc Medical Genetics
Santos, Susana S; Marques, Vanda V; Pires, Marina M; Silveira, Leonor L; Oliveira, Helena H; Lança, Vasco V; Brito, Dulce D; Madeira, Hugo H; Esteves, J Fonseca JF; Freitas, António A; Carreira, Isabel M IM; Gaspar, Isabel M IM; Monteiro, Carolino C; Fernandes, Alexandra R AR
Publication Date: 2012-03-19

Variant appearance in text: SCN5A: 2523C>G
PubMed Link: 22429680
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-17.pdf
View BVdb publication page