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SCN5A c.3745T>C ;(p.F1249L)
Variant ID: 3-38607992-A-G
NM_000335.4(
SCN5A
):c.3745T>C;(p.F1249L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
SCN5A Variants: Association With Cardiac Disorders.
Frontiers In Physiology
Li, Wenjia W; Yin, Lei L; Shen, Cheng C; Hu, Kai K; Ge, Junbo J; Sun, Aijun A
Publication Date: 2018
Variant appearance in text: SCN5A: 3745T>C
PubMed Link:
30364184
Variant Present in the following documents:
Main text
fphys-09-01372.pdf
View BVdb publication page
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015
Variant appearance in text: rs45589741
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
Genomic Medicine
Sudandiradoss, C C; Sethumadhavan, Rao R
Publication Date: 2008-12
Variant appearance in text: rs45589741
PubMed Link:
19214780
Variant Present in the following documents:
Main text
View BVdb publication page