chr3:38597170:GGGGCTTCT> 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	chr3:38,597,170-38,597,178
hg38	chr3:38,555,679-38,555,687

HGVS

SCN5A

Type	Transcript	Protein
RefSeq	NM_000335.4:c.4511_4519delAGAAGCCCC	NP_000326.2:p.Gln1507_Pro1509del
	NM_198056.2:c.4511_4519delAGAAGCCCC	NP_932173.1:p.Gln1507_Pro1509del
	NM_001099404.1:c.4511_4519delAGAAGCCCC	NP_001092874.1:p.Gln1507_Pro1509del
	NM_001160160.1:c.4511_4519delAGAAGCCCC	NP_001153632.1:p.Gln1507_Pro1509del
Ensemble	ENST00000414099.6:c.4457_4465delAGAAGCCCC	ENST00000414099.6:p.Gln1489_Pro1491del
	ENST00000450102.6:c.4349_4357delAGAAGCCCC	ENST00000450102.6:p.Gln1453_Pro1455del
	ENST00000449557.6:c.4349_4357delAGAAGCCCC	ENST00000449557.6:p.Gln1453_Pro1455del
	ENST00000333535.9:c.4511_4519delAGAAGCCCC	ENST00000333535.9:p.Gln1507_Pro1509del
	ENST00000423572.7:c.4508_4516delAGAAGCCCC	ENST00000423572.7:p.Gln1506_Pro1508del
	ENST00000455624.6:c.4508_4516delAGAAGCCCC	ENST00000455624.6:p.Gln1506_Pro1508del
	ENST00000413689.6:c.4511_4519delAGAAGCCCC	ENST00000413689.6:p.Gln1507_Pro1509del

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other specified conduction disorders	germline	MGS000037 (TMGS000089)	Mariko Shiba Naomasa Makita	National Cerebral and Cardiovascular Center National Cerebral and Cardiovascular Center Research Institute	7651517

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2005-02-01	no assertion criteria provided	long QT syndrome 3	germline	Detail
Pathogenic	2022-06-15	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2024-03-06	criteria provided, single submitter		germline	Detail
Pathogenic	2024-01-08	criteria provided, single submitter	long QT syndrome	paternal	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.4516_4524del (p.Gln1506_Pro1508del) AND Long QT syndrome 3	ClinVar	Detail
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) AND not provided	ClinVar	Detail
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) AND Cardiovascular phenotype	ClinVar	Detail
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) AND Long QT syndrome	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: rs397514251 dbSNP
Genome: hg19
Position: chr3:38,597,170-38,597,178
Variant Type: snv
Reference Allele: GGGGCTTCT
Alternative Allele: -

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