chr3:38607917:C>T 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	chr3:38,607,917-38,607,917
hg38	chr3:38,566,426-38,566,426 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.3823G>A	NP_000326.2:p.Asp1275Asn
	NM_198056.2:c.3823G>A	NP_932173.1:p.Asp1275Asn
	NM_001099404.1:c.3823G>A	NP_001092874.1:p.Asp1275Asn
	NM_001160160.1:c.3823G>A	NP_001153632.1:p.Asp1275Asn
Ensemble	ENST00000414099.6:c.3823G>A	ENST00000414099.6:p.Asp1275Asn
	ENST00000423572.7:c.3820G>A	ENST00000423572.7:p.Asp1274Asn
	ENST00000333535.9:c.3823G>A	ENST00000333535.9:p.Asp1275Asn
	ENST00000450102.6:c.3661G>A	ENST00000450102.6:p.Asp1221Asn
	ENST00000455624.6:c.3820G>A	ENST00000455624.6:p.Asp1274Asn
	ENST00000449557.6:c.3661G>A	ENST00000449557.6:p.Asp1221Asn
	ENST00000413689.6:c.3823G>A	ENST00000413689.6:p.Asp1275Asn

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
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 (TMGS000154)	Kenjiro Kosaki	Keio University
Pathogenic		sick sinus syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2006-05-01	no assertion criteria provided	dilated cardiomyopathy 1E	germline	Detail
Pathogenic	2006-05-01	no assertion criteria provided	Atrial fibrillation, familial, 10	germline	Detail
Pathogenic	2023-06-08	criteria provided, single submitter	Brugada syndrome	germline	Detail
Pathogenic	2006-05-01	no assertion criteria provided	Atrial standstill 1, digenic	germline	Detail
Pathogenic	2024-01-08	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-02-27	criteria provided, single submitter		germline	Detail
Pathogenic	2018-05-08	criteria provided, single submitter	long QT syndrome 3	unknown	Detail
Pathogenic	2022-03-29	criteria provided, single submitter	Cardiac arrhythmia	germline	Detail
Pathogenic	2024-01-12	criteria provided, single submitter	SCN5A-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.837	Brugada Syndrome (disorder)	NA	CLINVAR		Detail
0.360	CARDIOMYOPATHY, DILATED, 1E	NA	CLINVAR		Detail
0.240	Atrial fibrillation, familial, 10	NA	CLINVAR		Detail
0.133	Cardiomyopathy, Dilated	The D1275N SCN5A mutation has been associated with a range of unusual phenotypes...	BeFree	21824921	Detail
0.133	Cardiomyopathy, Dilated	The aim of this study was to generate and characterize a transgenic zebrafish ar...	BeFree	23791817	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) AND Dilated cardiomyopathy 1E	ClinVar	Detail
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) AND Atrial fibrillation, familial, 10	ClinVar	Detail
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) AND Brugada syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) AND Atrial standstill 1, digenic	ClinVar	Detail
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) AND Cardiovascular phenotype	ClinVar	Detail
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) AND Long QT syndrome 3	ClinVar	Detail
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) AND Cardiac arrhythmia	ClinVar	Detail
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) AND SCN5A-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The D1275N SCN5A mutation has been associated with a range of unusual phenotypes, including conducti...	DisGeNET	Detail
The aim of this study was to generate and characterize a transgenic zebrafish arrhythmia model harbo...	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: rs137854618 dbSNP
Genome: hg19
Position: chr3:38,607,917-38,607,917
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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