chr3:38562485:G>A Detail (hg38) (SCN5A)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr3:38,603,976-38,603,976 View the variant detail on this assembly version.
hg38	chr3:38,562,485-38,562,485

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.3893C>T	NP_000326.2:p.Pro1298Leu
	NM_198056.2:c.3893C>T	NP_932173.1:p.Pro1298Leu
	NM_001099404.1:c.3893C>T	NP_001092874.1:p.Pro1298Leu
	NM_001160160.1:c.3893C>T	NP_001153632.1:p.Pro1298Leu
Ensemble	ENST00000333535.9:c.3893C>T	ENST00000333535.9:p.Pro1298Leu
	ENST00000413689.6:c.3893C>T	ENST00000413689.6:p.Pro1298Leu
	ENST00000414099.6:c.3893C>T	ENST00000414099.6:p.Pro1298Leu
	ENST00000423572.7:c.3890C>T	ENST00000423572.7:p.Pro1297Leu
	ENST00000449557.6:c.3731C>T	ENST00000449557.6:p.Pro1244Leu
	ENST00000450102.6:c.3731C>T	ENST00000450102.6:p.Pro1244Leu
	ENST00000455624.6:c.3890C>T	ENST00000455624.6:p.Pro1297Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
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	2003-10-01	no assertion criteria provided	Sick sinus syndrome 1	germline	Detail
not provided		no assertion provided	sick sinus syndrome	germline	Detail
Uncertain significance	2018-12-10	criteria provided, single submitter	Cardiac arrhythmia	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	NA	CLINVAR		Detail
0.247	sick sinus syndrome	NA	CLINVAR		Detail
0.360	SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE	Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodi...	UNIPROT	14523039	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu) AND Sick sinus syndrome 1	ClinVar	Detail
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu) AND Sick sinus syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu) AND Cardiac arrhythmia	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN...	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: rs28937319 dbSNP
Genome: hg38
Position: chr3:38,562,485-38,562,485
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser