chr3:38648200:C>A 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	chr3:38,648,200-38,648,200
hg38	chr3:38,606,709-38,606,709 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.1100G>T	NP_000326.2:p.Arg367Leu
	NM_198056.2:c.1100G>T	NP_932173.1:p.Arg367Leu
	NM_001099404.1:c.1100G>T	NP_001092874.1:p.Arg367Leu
	NM_001160160.1:c.1100G>T	NP_001153632.1:p.Arg367Leu
Ensemble	ENST00000333535.9:c.1100G>T	ENST00000333535.9:p.Arg367Leu
	ENST00000413689.6:c.1100G>T	ENST00000413689.6:p.Arg367Leu
	ENST00000414099.6:c.1100G>T	ENST00000414099.6:p.Arg367Leu
	ENST00000423572.7:c.1100G>T	ENST00000423572.7:p.Arg367Leu
	ENST00000449557.6:c.1100G>T	ENST00000449557.6:p.Arg367Leu
	ENST00000450102.6:c.1100G>T	ENST00000450102.6:p.Arg367Leu
	ENST00000455624.6:c.1100G>T	ENST00000455624.6:p.Arg367Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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
not provided		no assertion provided	Brugada syndrome	germline	Detail
Uncertain significance	2017-04-07	criteria provided, single submitter		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
0.837	Brugada Syndrome (disorder)	Genotype-phenotype relationship in Brugada syndrome: electrocardiographic featur...	UNIPROT	12106943	Detail
0.440	long QT syndrome 3	Genotype-phenotype relationship in Brugada syndrome: electrocardiographic featur...	UNIPROT	12106943	Detail
0.837	Brugada Syndrome (disorder)	We screened patients with SUNDS for mutations in SCN5A, the gene known to cause ...	UNIPROT	11823453	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.1100G>T (p.Arg367Leu) AND Brugada syndrome	ClinVar	Detail
NM_000335.5(SCN5A):c.1100G>T (p.Arg367Leu) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.	DisGeNET	Detail
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN...	DisGeNET	Detail
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN...	DisGeNET	Detail
We screened patients with SUNDS for mutations in SCN5A, the gene known to cause Brugada syndrome, as...	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: rs28937318 dbSNP
Genome: hg19
Position: chr3:38,648,200-38,648,200
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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