SCN5A c.68C>A ;(p.A23D)

Variant ID: 3-38674731-G-T

NM_000335.4(SCN5A):c.68C>A;(p.A23D)

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:

Analysis of putative cis-regulatory elements regulating blood pressure variation.

Human Molecular Genetics
Nandakumar, Priyanka P; Lee, Dongwon D; Hoffmann, Thomas J TJ; Ehret, Georg B GB; Arking, Dan D; Ranatunga, Dilrini D; Li, Man M; Grove, Megan L ML; Boerwinkle, Eric E; Schaefer, Catherine C; Kwok, Pui-Yan PY; Iribarren, Carlos C; Risch, Neil N; Chakravarti, Aravinda A
Publication Date: 2020-07-21

Variant appearance in text: SCN5A: A23D
PubMed Link: 32436959
Variant Present in the following documents:
  • Main text
View BVdb publication page