chr3:38562413:A>G Detail (hg38) (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	chr3:38,603,904-38,603,904 View the variant detail on this assembly version.
hg38	chr3:38,562,413-38,562,413

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.3963+2T>C
	NM_198056.2:c.3963+2T>C
	NM_001099404.1:c.3963+2T>C
	NM_001160160.1:c.3963+2T>C
Ensemble	ENST00000333535.9:c.3963+2T>C
	ENST00000413689.6:c.3963+2T>C
	ENST00000414099.6:c.3963+2T>C
	ENST00000423572.7:c.3960+2T>C
	ENST00000449557.6:c.3801+2T>C
	ENST00000450102.6:c.3801+2T>C
	ENST00000455624.6:c.3960+2T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1999-09-01	no assertion criteria provided	Progressive familial heart block, type 1A	germline	Detail
Pathogenic	2022-11-15	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.442	Hereditary bundle branch system defect	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.3960+2T>C AND Progressive familial heart block, type 1A	ClinVar	Detail
NM_000335.5(SCN5A):c.3960+2T>C AND not provided	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs397514447 dbSNP
Genome: hg38
Position: chr3:38,562,413-38,562,413
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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