chr9:133433478:G>A Detail (hg38) (ADAMTS13)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr9:136,298,598-136,298,598 View the variant detail on this assembly version.
hg38	chr9:133,433,478-133,433,478

HGVS

ADAMTS13

Type	Transcript	Protein
RefSeq	NM_139026.4:c.1100G>A	NP_620595.1:p.Arg367His
	NM_139025.4:c.1193G>A	NP_620594.1:p.Arg398His
	NM_139027.4:c.1193G>A	NP_620596.2:p.Arg398His
Ensemble	ENST00000355699.7:c.1193G>A	ENST00000355699.7:p.Arg398His
	ENST00000356589.6:c.1100G>A	ENST00000356589.6:p.Arg367His
	ENST00000371916.5:c.449G>A	ENST00000371916.5:p.Arg150His
	ENST00000371929.7:c.1193G>A	ENST00000371929.7:p.Arg398His

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
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	tgv270668218	TogoVar
	COSMIC	COSM36777	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		thrombotic microangiopathy	not provided	MGS000036 (TMGS000079)	Mariko Shiba Koichi Kokame	National Cerebral and Cardiovascular Center National Cerebral and Cardiovascular Center Research Institute	31698449

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2001-10-04	no assertion criteria provided	Upshaw-Schulman syndrome	germline	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	We show that deficiency of ADAMTS13 is the molecular mechanism responsible for T...	UNIPROT	11586351	Detail

Annotation

Annotations

Descrption	Source	Links
NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His) AND Upshaw-Schulman syndrome	ClinVar	Detail
NA	DisGeNET	Detail
We show that deficiency of ADAMTS13 is the molecular mechanism responsible for TTP, and suggest that...	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: rs121908471 dbSNP
Genome: hg38
Position: chr9:133,433,478-133,433,478
Variant Type: snv
Reference Allele: G
Alternative Allele: A

Genome browser