chr3:38592387:G>A Detail (hg19) (SCN5A)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr3:38,592,387-38,592,387
hg38	chr3:38,550,896-38,550,896 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.5476C>T	NP_000326.2:p.Arg1826Cys
	NM_198056.2:c.5476C>T	NP_932173.1:p.Arg1826Cys
	NM_001099404.1:c.5476C>T	NP_001092874.1:p.Arg1826Cys
	NM_001160160.1:c.5476C>T	NP_001153632.1:p.Arg1826Cys
Ensemble	ENST00000333535.9:c.5476C>T	ENST00000333535.9:p.Arg1826Cys
	ENST00000413689.6:c.5476C>T	ENST00000413689.6:p.Arg1826Cys
	ENST00000414099.6:c.5422C>T	ENST00000414099.6:p.Arg1808Cys
	ENST00000423572.7:c.5473C>T	ENST00000423572.7:p.Arg1825Cys
	ENST00000449557.6:c.5314C>T	ENST00000449557.6:p.Arg1772Cys
	ENST00000450102.6:c.5314C>T	ENST00000450102.6:p.Arg1772Cys
	ENST00000455624.6:c.5377C>T	ENST00000455624.6:p.Arg1793Cys

Summary

MGeND

Clinical significance
Variant entry
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	Conflicting classifications of pathogenicity
Review star
Show details

Links

SCN5A

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	COSM3783709	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	atrial fibrillation	germline	Detail
Conflicting interpretations of pathogenicity	2023-10-05	criteria provided, conflicting interpretations	not provided	germline	Detail
Uncertain significance	2019-06-13	criteria provided, single submitter	Cardiac arrhythmia	germline	Detail
Uncertain significance	2022-08-11	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Atrial Fibrillation Adverse Event	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys) AND Atrial fibrillation	ClinVar	Detail
NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys) AND Cardiac arrhythmia	ClinVar	Detail
NM_000335.5(SCN5A):c.5473C>T (p.Arg1825Cys) 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: rs199473635 dbSNP
Genome: hg19
Position: chr3:38,592,387-38,592,387
Variant Type: snv
Reference Allele: G
Alternative Allele: A
Homozygous Counts in All Race (ExAC): 0
East Asian Chromosome Counts (ExAC): 8634
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): 120774
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Allele Frequency in All Race (ExAC): 2.4839783397088777E-5

Genome browser