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SCN5A c.5383G>A ;(p.E1795K)
Variant ID: 3-38592477-C-T
NM_000335.4(
SCN5A
):c.5383G>A;(p.E1795K)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Protein & Cell
Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N
Publication Date: 2017-06
Variant appearance in text: LQT3: E1795K
PubMed Link:
28150151
Variant Present in the following documents:
Main text
View BVdb publication page
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Genome Medicine
Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA
Publication Date: 2015
Variant appearance in text: SCN5A: 5383G>A
PubMed Link:
25649125
Variant Present in the following documents:
13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page