chr3:38592513: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	chr3:38,592,513-38,592,513
hg38	chr3:38,551,022-38,551,022 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.5350G>A	NP_000326.2:p.Glu1784Lys
	NM_198056.2:c.5350G>A	NP_932173.1:p.Glu1784Lys
	NM_001099404.1:c.5350G>A	NP_001092874.1:p.Glu1784Lys
	NM_001160160.1:c.5350G>A	NP_001153632.1:p.Glu1784Lys
Ensemble	ENST00000333535.9:c.5350G>A	ENST00000333535.9:p.Glu1784Lys
	ENST00000413689.6:c.5350G>A	ENST00000413689.6:p.Glu1784Lys
	ENST00000414099.6:c.5296G>A	ENST00000414099.6:p.Glu1766Lys
	ENST00000423572.7:c.5347G>A	ENST00000423572.7:p.Glu1783Lys
	ENST00000449557.6:c.5188G>A	ENST00000449557.6:p.Glu1730Lys
	ENST00000450102.6:c.5188G>A	ENST00000450102.6:p.Glu1730Lys
	ENST00000455624.6:c.5251G>A	ENST00000455624.6:p.Glu1751Lys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	9
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely 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	COSM3593255	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other specified conduction disorders	germline	MGS000037 (TMGS000089)	Mariko Shiba Naomasa Makita	National Cerebral and Cardiovascular Center National Cerebral and Cardiovascular Center Research Institute	18451998
Pathogenic		brugada syndrome	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University
Pathogenic		sick sinus syndrome	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic Likely pathogenic	2020-05-28	criteria provided, multiple submitters, no conflicts	long QT syndrome 3	germline unknown	Detail
Pathogenic	2008-06-01	no assertion criteria provided	Brugada syndrome 1	germline	Detail
Pathogenic	2008-06-01	no assertion criteria provided	Sinoatrial node disorder	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2024-01-28	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2022-01-14	criteria provided, multiple submitters, no conflicts	Brugada syndrome	germline	Detail
Pathogenic	2021-06-18	criteria provided, single submitter		germline	Detail
Pathogenic	2016-05-10	criteria provided, single submitter	long QT syndrome 1	germline	Detail
Pathogenic	2016-07-08	criteria provided, single submitter	Congenital long QT syndrome,Brugada syndrome	germline	Detail
Pathogenic	2016-07-08	criteria provided, single submitter	Congenital long QT syndrome,Brugada syndrome	germline	Detail
Pathogenic	2023-09-01	criteria provided, single submitter	Cardiac arrhythmia	germline	Detail
Pathogenic	2022-01-05	criteria provided, single submitter	SCN5A-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.130	Congenital long QT syndrome	NA	CLINVAR		Detail
0.440	long QT syndrome 3	NA	CLINVAR		Detail
0.335	long QT syndrome	The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type...	BeFree	18451998	Detail
0.335	long QT syndrome	High prevalence of the SCN5A E1784K mutation in school children with long QT syn...	BeFree	24871449	Detail
0.122	Sinus Node Dysfunction (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND Long QT syndrome 3	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND Brugada syndrome 1	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND Sinoatrial node disorder	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND Congenital long QT syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND Brugada syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND Cardiovascular phenotype	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND Long QT syndrome 1	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND multiple conditions	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND Cardiac arrhythmia	ClinVar	Detail
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND SCN5A-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.	DisGeNET	Detail
High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the ...	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: rs137854601 dbSNP
Genome: hg19
Position: chr3:38,592,513-38,592,513
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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