chr3:38592995: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	chr3:38,592,995-38,592,995
hg38	chr3:38,551,504-38,551,504 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_001099404.1:c.4868G>A	NP_001092874.1:p.Arg1623Gln
	NM_001160160.1:c.4868G>A	NP_001153632.1:p.Arg1623Gln
	NM_000335.4:c.4868G>A	NP_000326.2:p.Arg1623Gln
	NM_198056.2:c.4868G>A	NP_932173.1:p.Arg1623Gln
Ensemble	ENST00000423572.7:c.4865G>A	ENST00000423572.7:p.Arg1622Gln
	ENST00000413689.6:c.4868G>A	ENST00000413689.6:p.Arg1623Gln
	ENST00000333535.9:c.4868G>A	ENST00000333535.9:p.Arg1623Gln
	ENST00000414099.6:c.4814G>A	ENST00000414099.6:p.Arg1605Gln
	ENST00000449557.6:c.4706G>A	ENST00000449557.6:p.Arg1569Gln
	ENST00000450102.6:c.4706G>A	ENST00000450102.6:p.Arg1569Gln
	ENST00000455624.6:c.4769G>A	ENST00000455624.6:p.Arg1590Gln

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	7
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		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University
Pathogenic		sick sinus syndrome	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000174)	Kenjiro Kosaki	Keio University
Pathogenic		progressive familial heart block	germline	MGS000001 (TMGS000179)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000179)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2006-09-01	no assertion criteria provided	long QT syndrome 3	germline	Detail
Pathogenic	2006-09-01	no assertion criteria provided	Long QT syndrome 3/6, digenic	germline	Detail
not provided		no assertion provided	Congenital long QT syndrome	germline	Detail
Pathogenic	2023-04-25	criteria provided, multiple submitters, no conflicts	not provided	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 surviving infant was found to have a heterozygous mutation in SCN5A (R1623Q)...	BeFree	15184283	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) AND Long QT syndrome 3	ClinVar	Detail
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) AND Long QT syndrome 3/6, digenic	ClinVar	Detail
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) AND Congenital long QT syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
The surviving infant was found to have a heterozygous mutation in SCN5A (R1623Q), previously reporte...	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: rs137854600 dbSNP
Genome: hg19
Position: chr3:38,592,995-38,592,995
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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