chr9:136302956:G>A Detail (hg19) (ADAMTS13)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr9:136,302,956-136,302,956
hg38	chr9:133,437,836-133,437,836 View the variant detail on this assembly version.

HGVS

ADAMTS13

Type	Transcript	Protein
RefSeq	NM_139026.4:c.1430G>A	NP_620595.1:p.Cys477Tyr
	NM_139025.4:c.1523G>A	NP_620594.1:p.Cys508Tyr
	NM_139027.4:c.1523G>A	NP_620596.2:p.Cys508Tyr
Ensemble	ENST00000355699.7:c.1523G>A	ENST00000355699.7:p.Cys508Tyr
	ENST00000356589.6:c.1430G>A	ENST00000356589.6:p.Cys477Tyr
	ENST00000371916.5:c.779G>A	ENST00000371916.5:p.Cys260Tyr
	ENST00000371929.7:c.1523G>A	ENST00000371929.7:p.Cys508Tyr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
Review star
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

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2002-09-03	no assertion criteria provided	Upshaw-Schulman syndrome	germline	Detail
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.453	Congenital Thrombotic Thrombocytopenic Purpura	NA	CLINVAR		Detail
0.453	Congenital Thrombotic Thrombocytopenic Purpura	Here, we report missense and nonsense mutations in two Japanese families with Up...	UNIPROT	12181489	Detail

Annotation

Annotations

Descrption	Source	Links
NM_139025.3(ADAMTS13):c.[1342C>G;1523G>A] AND Upshaw-Schulman syndrome	ClinVar	Detail
NM_139027.6(ADAMTS13):c.1523G>A (p.Cys508Tyr) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Here, we report missense and nonsense mutations in two Japanese families with Upshaw-Schulman syndro...	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: rs281875305 dbSNP
Genome: hg19
Position: chr9:136,302,956-136,302,956
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser