chr3:38551441: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	chr3:38,592,932-38,592,932 View the variant detail on this assembly version.
hg38	chr3:38,551,441-38,551,441

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.4931G>T	NP_000326.2:p.Arg1644Leu
	NM_198056.2:c.4931G>T	NP_932173.1:p.Arg1644Leu
	NM_001099404.1:c.4931G>T	NP_001092874.1:p.Arg1644Leu
	NM_001160160.1:c.4931G>T	NP_001153632.1:p.Arg1644Leu
Ensemble	ENST00000333535.9:c.4931G>T	ENST00000333535.9:p.Arg1644Leu
	ENST00000413689.6:c.4931G>T	ENST00000413689.6:p.Arg1644Leu
	ENST00000414099.6:c.4877G>T	ENST00000414099.6:p.Arg1626Leu
	ENST00000423572.7:c.4928G>T	ENST00000423572.7:p.Arg1643Leu
	ENST00000449557.6:c.4769G>T	ENST00000449557.6:p.Arg1590Leu
	ENST00000450102.6:c.4769G>T	ENST00000450102.6:p.Arg1590Leu
	ENST00000455624.6:c.4832G>T	ENST00000455624.6:p.Arg1611Leu

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
Review star	[No Data.]
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

[No Data.]

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
0.440	long QT syndrome 3	Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and...	UNIPROT	10973849	Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.	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: -
Genome: hg38
Position: chr3:38,551,441-38,551,441
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8654
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): 121412
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.236418146476461E-6

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