chr3:38550683:G>A Detail (hg38) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,592,174-38,592,174 View the variant detail on this assembly version.
hg38 chr3:38,550,683-38,550,683

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.5689C>T NP_000326.2:p.Arg1897Trp
NM_198056.2:c.5689C>T NP_932173.1:p.Arg1897Trp
NM_001099404.1:c.5689C>T NP_001092874.1:p.Arg1897Trp
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 600163 OMIM
HGNC 10593 HGNC
Ensembl ENSG00000183873 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv249576200 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance sick sinus syndrome germline MGS000001
(TMGS000174) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-14 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2014-06-01 no assertion criteria provided long QT syndrome germline Detail
Uncertain significance 2022-02-17 criteria provided, single submitter Progressive familial heart block, type 1A,Brugada syndrome 1,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,sudden infant death syndrome,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2022-02-17 criteria provided, single submitter Progressive familial heart block, type 1A,Brugada syndrome 1,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,sudden infant death syndrome,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2022-02-17 criteria provided, single submitter Progressive familial heart block, type 1A,Brugada syndrome 1,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,sudden infant death syndrome,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2022-02-17 criteria provided, single submitter Progressive familial heart block, type 1A,Brugada syndrome 1,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,sudden infant death syndrome,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2022-02-17 criteria provided, single submitter Progressive familial heart block, type 1A,Brugada syndrome 1,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,sudden infant death syndrome,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2022-02-17 criteria provided, single submitter Progressive familial heart block, type 1A,Brugada syndrome 1,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,sudden infant death syndrome,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2022-02-17 criteria provided, single submitter Progressive familial heart block, type 1A,Brugada syndrome 1,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,sudden infant death syndrome,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2022-02-17 criteria provided, single submitter Progressive familial heart block, type 1A,Brugada syndrome 1,dilated cardiomyopathy 1E,long QT syndrome 3,Ventricular fibrillation, paroxysmal familial, type 1,Atrial fibrillation, familial, 10,sudden infant death syndrome,Sick sinus syndrome 1 unknown Detail
Uncertain significance 2018-10-10 criteria provided, single submitter not specified germline Detail
Uncertain significance 2017-05-19 criteria provided, single submitter Primary dilated cardiomyopathy germline Detail
Uncertain significance 2019-05-28 criteria provided, single submitter Brugada syndrome 1 unknown Detail
Uncertain significance 2023-12-13 criteria provided, multiple submitters, no conflicts Cardiac arrhythmia germline Detail
Uncertain significance 2022-09-09 criteria provided, single submitter cardiomyopathy germline Detail
Uncertain significance 2019-01-18 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.335 long QT syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND Long QT syndrome ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND not specified ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND Primary dilated cardiomyopathy ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND Brugada syndrome 1 ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND Cardiomyopathy ClinVar Detail
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp) AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs45465995 dbSNP
Genome
hg38
Position
chr3:38,550,683-38,550,683
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8626
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120768
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.936406995230525E-5
Genome browser