chr3:38554498:C>A Detail (hg38) (SCN5A)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr3:38,595,989-38,595,989 View the variant detail on this assembly version.
hg38	chr3:38,554,498-38,554,498

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.4594G>T	NP_000326.2:p.Val1532Phe
	NM_198056.2:c.4594G>T	NP_932173.1:p.Val1532Phe
	NM_001099404.1:c.4594G>T	NP_001092874.1:p.Val1532Phe
	NM_001160160.1:c.4594G>T	NP_001153632.1:p.Val1532Phe
Ensemble	ENST00000333535.9:c.4594G>T	ENST00000333535.9:p.Val1532Phe
	ENST00000413689.6:c.4594G>T	ENST00000413689.6:p.Val1532Phe
	ENST00000414099.6:c.4540G>T	ENST00000414099.6:p.Val1514Phe
	ENST00000423572.7:c.4591G>T	ENST00000423572.7:p.Val1531Phe
	ENST00000449557.6:c.4432G>T	ENST00000449557.6:p.Val1478Phe
	ENST00000450102.6:c.4432G>T	ENST00000450102.6:p.Val1478Phe
	ENST00000455624.6:c.4591G>T	ENST00000455624.6:p.Val1531Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

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
Uncertain significance	2013-06-24	criteria provided, single submitter	long QT syndrome	unknown	Detail
Uncertain significance	2019-09-18	criteria provided, single submitter	Cardiac arrhythmia	germline	Detail
Uncertain significance	2022-07-06	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.130	Congenital long QT syndrome	NA	CLINVAR		Detail
0.335	long QT syndrome	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) AND Long QT syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) AND Cardiac arrhythmia	ClinVar	Detail
NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) AND not provided	ClinVar	Detail
NA	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: rs199473618 dbSNP
Genome: hg38
Position: chr3:38,554,498-38,554,498
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8626
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 120748
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.3126842680624107E-5

Genome browser