chr3:38597233:A>G 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	chr3:38,597,233-38,597,233
hg38	chr3:38,555,742-38,555,742 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.4456T>C	NP_000326.2:p.Phe1486Leu
	NM_198056.2:c.4456T>C	NP_932173.1:p.Phe1486Leu
	NM_001099404.1:c.4456T>C	NP_001092874.1:p.Phe1486Leu
	NM_001160160.1:c.4456T>C	NP_001153632.1:p.Phe1486Leu
Ensemble	ENST00000333535.9:c.4456T>C	ENST00000333535.9:p.Phe1486Leu
	ENST00000413689.6:c.4456T>C	ENST00000413689.6:p.Phe1486Leu
	ENST00000414099.6:c.4402T>C	ENST00000414099.6:p.Phe1468Leu
	ENST00000423572.7:c.4453T>C	ENST00000423572.7:p.Phe1485Leu
	ENST00000449557.6:c.4294T>C	ENST00000449557.6:p.Phe1432Leu
	ENST00000450102.6:c.4294T>C	ENST00000450102.6:p.Phe1432Leu
	ENST00000455624.6:c.4453T>C	ENST00000455624.6:p.Phe1485Leu

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	sudden infant death syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.386	sudden infant death syndrome	NA	CLINVAR		Detail
0.335	long QT syndrome	Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantl...	BeFree	17210841	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.4453T>C (p.Phe1485Leu) AND SUDDEN INFANT DEATH SYNDROME	ClinVar	Detail
NA	DisGeNET	Detail
Five variants (S216L, T1304M, F1486L, F2004L, and P2006A) exhibited significantly increased persiste...	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: rs199473615 dbSNP
Genome: hg19
Position: chr3:38,597,233-38,597,233
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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