SCN5A c.3953G>C ;(p.G1318A)

Variant ID: 3-38603913-C-G

NM_000335.4(SCN5A):c.3953G>C;(p.G1318A)

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:

Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.

Circulation. Cardiovascular Genetics
Golbus, Jessica R JR; Puckelwartz, Megan J MJ; Dellefave-Castillo, Lisa L; Fahrenbach, John P JP; Nelakuditi, Viswateja V; Pesce, Lorenzo L LL; Pytel, Peter P; McNally, Elizabeth M EM
Publication Date: 2014-12

Variant appearance in text: SCN5A: G1318A
PubMed Link: 25179549
Variant Present in the following documents:
  • Main text
View BVdb publication page