chr3:38550748:A>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	chr3:38,592,239-38,592,239 View the variant detail on this assembly version.
hg38	chr3:38,550,748-38,550,748

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.5624T>C	NP_000326.2:p.Met1875Thr
	NM_198056.2:c.5624T>C	NP_932173.1:p.Met1875Thr
	NM_001099404.1:c.5624T>C	NP_001092874.1:p.Met1875Thr
	NM_001160160.1:c.5624T>C	NP_001153632.1:p.Met1875Thr
Ensemble	ENST00000333535.9:c.5624T>C	ENST00000333535.9:p.Met1875Thr
	ENST00000413689.6:c.5624T>C	ENST00000413689.6:p.Met1875Thr
	ENST00000414099.6:c.5570T>C	ENST00000414099.6:p.Met1857Thr
	ENST00000423572.7:c.5621T>C	ENST00000423572.7:p.Met1874Thr
	ENST00000449557.6:c.5462T>C	ENST00000449557.6:p.Met1821Thr
	ENST00000450102.6:c.5462T>C	ENST00000450102.6:p.Met1821Thr
	ENST00000455624.6:c.5525T>C	ENST00000455624.6:p.Met1842Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely pathogenic
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	atrial fibrillation	germline	Detail
Likely pathogenic	2024-01-04	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Atrial Fibrillation Adverse Event	NA	CLINVAR		Detail
0.005	Fibrillation	A novel SCN5A gain-of-function mutation M1875T associated with familial atrial f...	BeFree	18929244	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr) AND Atrial fibrillation	ClinVar	Detail
NM_000335.5(SCN5A):c.5621T>C (p.Met1874Thr) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation.	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: rs199473324 dbSNP
Genome: hg38
Position: chr3:38,550,748-38,550,748
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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