chr9:136305465:C>T 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	chr9:136,305,465-136,305,465
hg38	chr9:133,440,344-133,440,344 View the variant detail on this assembly version.

HGVS

ADAMTS13

Type	Transcript	Protein
RefSeq	NM_139026.4:c.1694C>T	NP_620595.1:p.Ala565Val
	NM_139025.4:c.1787C>T	NP_620594.1:p.Ala596Val
	NM_139027.4:c.1787C>T	NP_620596.2:p.Ala596Val
Ensemble	ENST00000355699.7:c.1787C>T	ENST00000355699.7:p.Ala596Val
	ENST00000356589.6:c.1694C>T	ENST00000356589.6:p.Ala565Val
	ENST00000371916.5:c.1043C>T	ENST00000371916.5:p.Ala348Val
	ENST00000371929.7:c.1787C>T	ENST00000371929.7:p.Ala596Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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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	COSM3905298	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-04-12	criteria provided, single submitter	not provided	germline not provided	Detail
Pathogenic	2019-02-01	criteria provided, single submitter	thrombotic thrombocytopenic purpura	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.453	Congenital Thrombotic Thrombocytopenic Purpura	Ten candidate ADAMTS13 mutations in six French families with congenital thrombot...	UNIPROT	15009458	Detail

Annotation

Annotations

Descrption	Source	Links
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) AND not provided	ClinVar	Detail
NM_139027.6(ADAMTS13):c.1787C>T (p.Ala596Val) AND Thrombotic thrombocytopenic purpura	ClinVar	Detail
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic ...	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: rs281875299 dbSNP
Genome: hg19
Position: chr9:136,305,465-136,305,465
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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