chr9:136310908:C>A Detail (hg19) (ADAMTS13)

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

Genome

Assembly	Position
hg19	chr9:136,310,908-136,310,908
hg38	chr9:133,445,787-133,445,787 View the variant detail on this assembly version.

HGVS

ADAMTS13

Type	Transcript	Protein
RefSeq	NM_139026.4:c.2606C>A	NP_620595.1:p.Ala869Glu
	NM_139025.4:c.2699C>A	NP_620594.1:p.Ala900Glu
	NM_139027.4:c.2699C>A	NP_620596.2:p.Ala900Glu
Ensemble	ENST00000355699.7:c.2699C>A	ENST00000355699.7:p.Ala900Glu
	ENST00000356589.6:c.2606C>A	ENST00000356589.6:p.Ala869Glu
	ENST00000371916.5:c.*168C>A
	ENST00000371929.7:c.2699C>A	ENST00000371929.7:p.Ala900Glu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

ADAMTS13

Type	Database	ID	Link
Gene	MIM	604134	OMIM
	HGNC	1366	HGNC
	Ensembl	ENSG00000160323	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

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.004	coronary artery disease	Based on related populations frequencies and functional studies, we tested three...	BeFree	19427680	Detail

Annotation

Annotations

Descrption	Source	Links
Based on related populations frequencies and functional studies, we tested three ADAMTS13 polymorphi...	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: rs685523 dbSNP
Genome: hg19
Position: chr9:136,310,908-136,310,908
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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