chr3:38630420:C>G 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	chr3:38,671,911-38,671,911 View the variant detail on this assembly version.
hg38	chr3:38,630,420-38,630,420

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.283G>C	NP_000326.2:p.Val95Leu
	NM_198056.2:c.283G>C	NP_932173.1:p.Val95Leu
	NM_001099404.1:c.283G>C	NP_001092874.1:p.Val95Leu
	NM_001160160.1:c.283G>C	NP_001153632.1:p.Val95Leu
Ensemble	ENST00000333535.9:c.283G>C	ENST00000333535.9:p.Val95Leu
	ENST00000413689.6:c.283G>C	ENST00000413689.6:p.Val95Leu
	ENST00000414099.6:c.283G>C	ENST00000414099.6:p.Val95Leu
	ENST00000423572.7:c.283G>C	ENST00000423572.7:p.Val95Leu
	ENST00000449557.6:c.283G>C	ENST00000449557.6:p.Val95Leu
	ENST00000450102.6:c.283G>C	ENST00000450102.6:p.Val95Leu
	ENST00000455624.6:c.283G>C	ENST00000455624.6:p.Val95Leu

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
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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
Uncertain significance	2022-05-12	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.837	Brugada Syndrome (disorder)	NA	CLINVAR		Detail
0.837	Brugada Syndrome (disorder)	Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated i...	BeFree	24529773	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.283G>C (p.Val95Leu) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.	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: rs199473054 dbSNP
Genome: hg38
Position: chr3:38,630,420-38,630,420
Variant Type: snv
Reference Allele: C
Alternative Allele: G
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): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.281710670156027E-6

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