chr3:38640469:C>T Detail (hg19) (SCN5A)

Information

Genome

Assembly Position
hg19 chr3:38,640,469-38,640,469
hg38 chr3:38,598,978-38,598,978 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000335.4:c.1963G>A NP_000326.2:p.Glu655Lys
NM_198056.2:c.1963G>A NP_932173.1:p.Glu655Lys
NM_001099404.1:c.1963G>A NP_001092874.1:p.Glu655Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2008-04-15 no assertion criteria provided Atrial fibrillation, familial, 10 germline Detail
not provided no assertion provided atrial fibrillation germline Detail
Uncertain significance 2023-01-03 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2021-07-10 criteria provided, single submitter Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,dilated cardiomyopathy 1E,Brugada syndrome 1,Atrial fibrillation, familial, 10,long QT syndrome 3 unknown Detail
Uncertain significance 2021-07-10 criteria provided, single submitter Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,dilated cardiomyopathy 1E,Brugada syndrome 1,Atrial fibrillation, familial, 10,long QT syndrome 3 unknown Detail
Uncertain significance 2021-07-10 criteria provided, single submitter Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,dilated cardiomyopathy 1E,Brugada syndrome 1,Atrial fibrillation, familial, 10,long QT syndrome 3 unknown Detail
Uncertain significance 2021-07-10 criteria provided, single submitter Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,dilated cardiomyopathy 1E,Brugada syndrome 1,Atrial fibrillation, familial, 10,long QT syndrome 3 unknown Detail
Uncertain significance 2021-07-10 criteria provided, single submitter Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,dilated cardiomyopathy 1E,Brugada syndrome 1,Atrial fibrillation, familial, 10,long QT syndrome 3 unknown Detail
Uncertain significance 2021-07-10 criteria provided, single submitter Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,dilated cardiomyopathy 1E,Brugada syndrome 1,Atrial fibrillation, familial, 10,long QT syndrome 3 unknown Detail
Uncertain significance 2021-07-10 criteria provided, single submitter Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,dilated cardiomyopathy 1E,Brugada syndrome 1,Atrial fibrillation, familial, 10,long QT syndrome 3 unknown Detail
Uncertain significance 2021-07-10 criteria provided, single submitter Sick sinus syndrome 1,Ventricular fibrillation, paroxysmal familial, type 1,Progressive familial heart block, type 1A,sudden infant death syndrome,dilated cardiomyopathy 1E,Brugada syndrome 1,Atrial fibrillation, familial, 10,long QT syndrome 3 unknown Detail
Uncertain significance 2023-10-27 criteria provided, single submitter Cardiac arrhythmia germline Detail
Uncertain significance 2020-03-17 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.240 Atrial fibrillation, familial, 10 NA CLINVAR Detail
0.120 Atrial Fibrillation Adverse Event NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND Atrial fibrillation, familial, 10 ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND Atrial fibrillation ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND not provided ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND multiple conditions ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND Cardiac arrhythmia ClinVar Detail
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) AND Cardiovascular phenotype ClinVar Detail
NA DisGeNET 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
rs199473579 dbSNP
Genome
hg19
Position
chr3:38,640,469-38,640,469
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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