chr3:38645553:C>A Detail (hg19) (SCN5A)

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

Genome

Assembly	Position
hg19	chr3:38,645,553-38,645,553
hg38	chr3:38,604,062-38,604,062 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_001099404.1:c.1540G>T	NP_001092874.1:p.Gly514Cys
	NM_001160160.1:c.1540G>T	NP_001153632.1:p.Gly514Cys
	NM_000335.4:c.1540G>T	NP_000326.2:p.Gly514Cys
	NM_198056.2:c.1540G>T	NP_932173.1:p.Gly514Cys
Ensemble	ENST00000413689.6:c.1540G>T	ENST00000413689.6:p.Gly514Cys
	ENST00000450102.6:c.1540G>T	ENST00000450102.6:p.Gly514Cys
	ENST00000423572.7:c.1540G>T	ENST00000423572.7:p.Gly514Cys
	ENST00000333535.9:c.1540G>T	ENST00000333535.9:p.Gly514Cys
	ENST00000449557.6:c.1540G>T	ENST00000449557.6:p.Gly514Cys
	ENST00000414099.6:c.1540G>T	ENST00000414099.6:p.Gly514Cys
	ENST00000455624.6:c.1540G>T	ENST00000455624.6:p.Gly514Cys

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		sick sinus syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2001-02-22	no assertion criteria provided	Cardiac conduction defect, nonprogressive	germline	Detail
not provided		no assertion provided	Conduction system disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	NA	CLINVAR		Detail
0.120	Cardiac conduction defect, nonprogressive	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.1540G>T (p.Gly514Cys) AND Cardiac conduction defect, nonprogressive	ClinVar	Detail
NM_000335.5(SCN5A):c.1540G>T (p.Gly514Cys) AND Conduction system disorder	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: rs137854606 dbSNP
Genome: hg19
Position: chr3:38,645,553-38,645,553
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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