chr3:38593004:G>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	chr3:38,593,004-38,593,004
hg38	chr3:38,551,513-38,551,513 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.4859C>A	NP_000326.2:p.Thr1620Lys
	NM_198056.2:c.4859C>A	NP_932173.1:p.Thr1620Lys
	NM_001099404.1:c.4859C>A	NP_001092874.1:p.Thr1620Lys
	NM_001160160.1:c.4859C>A	NP_001153632.1:p.Thr1620Lys
Ensemble	ENST00000333535.9:c.4859C>A	ENST00000333535.9:p.Thr1620Lys
	ENST00000413689.6:c.4859C>A	ENST00000413689.6:p.Thr1620Lys
	ENST00000414099.6:c.4805C>A	ENST00000414099.6:p.Thr1602Lys
	ENST00000423572.7:c.4856C>A	ENST00000423572.7:p.Thr1619Lys
	ENST00000449557.6:c.4697C>A	ENST00000449557.6:p.Thr1566Lys
	ENST00000450102.6:c.4697C>A	ENST00000450102.6:p.Thr1566Lys
	ENST00000455624.6:c.4760C>A	ENST00000455624.6:p.Thr1587Lys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	Conduction system disorder	germline	Detail
Pathogenic	2022-07-19	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2022-09-06	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.837	Brugada Syndrome (disorder)	NA	CLINVAR		Detail
0.120	CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)	NA	CLINVAR		Detail
0.837	Brugada Syndrome (disorder)	Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsi...	BeFree	18503232	Detail
0.837	Brugada Syndrome (disorder)	Expression and intracellular localization of an SCN5A double mutant R1232W/T1620...	BeFree	11786529	Detail
0.837	Brugada Syndrome (disorder)	SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes w...	BeFree	10664447	Detail
0.837	Brugada Syndrome (disorder)	The biophysical properties of the SCN5A mutation T1620M associated with Brugada ...	BeFree	11029409	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys) AND Conduction system disorder	ClinVar	Detail
NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.4856C>A (p.Thr1619Lys) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada synd...	DisGeNET	Detail
Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brug...	DisGeNET	Detail
SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xen...	DisGeNET	Detail
The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examin...	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: rs199473282 dbSNP
Genome: hg19
Position: chr3:38,593,004-38,593,004
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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