chr3:38554309:C>T 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	chr3:38,595,800-38,595,800 View the variant detail on this assembly version.
hg38	chr3:38,554,309-38,554,309

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.4783G>A	NP_000326.2:p.Asp1595Asn
	NM_198056.2:c.4783G>A	NP_932173.1:p.Asp1595Asn
	NM_001099404.1:c.4783G>A	NP_001092874.1:p.Asp1595Asn
	NM_001160160.1:c.4783G>A	NP_001153632.1:p.Asp1595Asn
Ensemble	ENST00000455624.6:c.4714+66G>A
	ENST00000333535.9:c.4783G>A	ENST00000333535.9:p.Asp1595Asn
	ENST00000413689.6:c.4783G>A	ENST00000413689.6:p.Asp1595Asn
	ENST00000414099.6:c.4729G>A	ENST00000414099.6:p.Asp1577Asn
	ENST00000423572.7:c.4780G>A	ENST00000423572.7:p.Asp1594Asn
	ENST00000449557.6:c.4621G>A	ENST00000449557.6:p.Asp1541Asn
	ENST00000450102.6:c.4621G>A	ENST00000450102.6:p.Asp1541Asn

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM5399236	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	2002-01-22	no assertion criteria provided	Progressive familial heart block, type 1A	germline	Detail
not provided		no assertion provided	atrioventricular block	germline	Detail
Pathogenic Likely pathogenic	2023-12-28	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2020-01-28	criteria provided, single submitter	Atrial fibrillation, familial, 10	unknown	Detail
Likely pathogenic	2023-06-05	criteria provided, single submitter	SCN5A-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.442	Hereditary bundle branch system defect	NA	CLINVAR		Detail
0.360	CARDIOMYOPATHY, DILATED, 1E	NA	CLINVAR		Detail
0.010	Heart Diseases	In the DCM cohort, additional missense (T220I, R814W, D1595H) and truncation (25...	BeFree	15671429	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) AND Progressive familial heart block, type 1A	ClinVar	Detail
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) AND Atrioventricular block	ClinVar	Detail
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) AND Atrial fibrillation, familial, 10	ClinVar	Detail
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) AND SCN5A-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
In the DCM cohort, additional missense (T220I, R814W, D1595H) and truncation (2550-2551insTG) SCN5A ...	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: rs137854607 dbSNP
Genome: hg38
Position: chr3:38,554,309-38,554,309
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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