chr3:38575345:C>A 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	chr3:38,616,836-38,616,836 View the variant detail on this assembly version.
hg38	chr3:38,575,345-38,575,345

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.3618G>T	NP_000326.2:p.Trp1206Cys
	NM_198056.2:c.3618G>T	NP_932173.1:p.Trp1206Cys
	NM_001099404.1:c.3618G>T	NP_001092874.1:p.Trp1206Cys
	NM_001160160.1:c.3618G>T	NP_001153632.1:p.Trp1206Cys
Ensemble	ENST00000333535.9:c.3618G>T	ENST00000333535.9:p.Trp1206Cys
	ENST00000413689.6:c.3618G>T	ENST00000413689.6:p.Trp1206Cys
	ENST00000414099.6:c.3618G>T	ENST00000414099.6:p.Trp1206Cys
	ENST00000423572.7:c.3615G>T	ENST00000423572.7:p.Trp1205Cys
	ENST00000449557.6:c.3456G>T	ENST00000449557.6:p.Trp1152Cys
	ENST00000450102.6:c.3456G>T	ENST00000450102.6:p.Trp1152Cys
	ENST00000455624.6:c.3615G>T	ENST00000455624.6:p.Trp1205Cys

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.335	long QT syndrome	In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in S...	BeFree	18071069	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.3615G>T (p.Trp1205Cys) AND not provided	ClinVar	Detail
In contrast, in 6 of 60 women (10%), we identified 5 rare missense variants in SCN5A that either had...	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: rs199473203 dbSNP
Genome: hg38
Position: chr3:38,575,345-38,575,345
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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