chr3:38622828:GA>TT Detail (hg19) (SCN5A, LOC110121269)

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

Genome

Assembly	Position
hg19	chr3:38,622,828-38,622,829
hg38	chr3:38,581,337-38,581,338 View the variant detail on this assembly version.

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.2821_2822delinsAA	NP_000326.2:p.Ser941Asn
	NM_198056.2:c.2821_2822delinsAA	NP_932173.1:p.Ser941Asn
	NM_001099404.1:c.2821_2822delinsAA	NP_001092874.1:p.Ser941Asn
	NM_001160160.1:c.2821_2822delinsAA	NP_001153632.1:p.Ser941Asn
Ensemble	ENST00000333535.9:c.2821_2822delinsAA	ENST00000333535.9:p.Ser941Asn
	ENST00000413689.6:c.2821_2822delinsAA	ENST00000413689.6:p.Ser941Asn
	ENST00000414099.6:c.2821_2822delinsAA	ENST00000414099.6:p.Ser941Asn
	ENST00000423572.7:c.2821_2822delinsAA	ENST00000423572.7:p.Ser941Asn
	ENST00000449557.6:c.2821_2822delinsAA	ENST00000449557.6:p.Ser941Asn
	ENST00000450102.6:c.2821_2822delinsAA	ENST00000450102.6:p.Ser941Asn
	ENST00000455624.6:c.2821_2822delinsAA	ENST00000455624.6:p.Ser941Asn

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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
Pathogenic	2000-07-27	no assertion criteria provided	long QT syndrome 3	germline	Detail
Likely pathogenic	2022-02-01	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2017-09-27	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.440	long QT syndrome 3	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) AND Long QT syndrome 3	ClinVar	Detail
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) AND Cardiovascular phenotype	ClinVar	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: rs137854605 dbSNP
Genome: hg19
Position: chr3:38,622,828-38,622,829
Variant Type: snv
Reference Allele: GA
Alternative Allele: TT

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