ADAMTS13 Chromosome 9
ADAM metallopeptidase with thrombospondin type 1 motif 13
Upload your DNA to see your personal genotypes for variants in ADAMTS13.
What This Gene Does
This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
ADAM metallopeptidases with thrombospondin type 1 motif
Locus Type
gene with protein product
Location
9q34.2
Ensembl
ENSG00000160323
Associated Conditions (11)
Upshaw-Schulman syndrome
Inborn genetic diseases
ADAMTS13-related disorder
Thrombus
See cases
Ovarian serous cystadenocarcinoma
Cervical cancer
Atypical hemolytic-uremic syndrome
Thrombotic thrombocytopenic purpura
Thrombocytopenia
Abnormal bleeding
Key Variants
RS11575933
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS1183963868
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138014548
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS138489501
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS138699340
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome
Health Risk
RS139214644
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Inborn genetic diseases, ADAMTS13-related disorder
Health Risk
RS1393965473
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS139951127
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS140628579
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS140639242
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Thrombus, ADAMTS13-related disorder
Health Risk
RS141811556
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
RS142214608
Conflicting classifications of pathogenicity
Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
Health Risk
All Variants (166)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS372953477 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS373530345 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS13-related disorder, Upshaw-Schulman syndrome, ADAMTS13-related disorder |
| RS373569027 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS374444423 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS13-related disorder, Upshaw-Schulman syndrome, ADAMTS13-related disorder |
| RS374606481 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome |
| RS375335095 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS377220995 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Upshaw-Schulman syndrome, Inborn genetic diseases |
| RS377454829 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS587602874 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS587701622 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587750566 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS587768675 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754541465 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS756898709 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS762112077 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS77985067 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS781862563 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS781938740 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS781945326 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS782090689 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782109481 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Upshaw-Schulman syndrome, Inborn genetic diseases |
| RS782235228 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS782239711 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS782311486 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome |
| RS782472825 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome |
| RS782604159 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome |
| RS782661001 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS782724202 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS782748173 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS886063636 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS898957135 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS944652890 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome |
| RS1060499780 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS121908471 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1474290508 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1554785114 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1554789680 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1554793379 | Health Risk | Likely pathogenic | — |
| RS1554795391 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1554796161 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1554797078 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1841759683 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS201457594 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS2130769073 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS2130845614 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS2491096625 | Health Risk | Likely pathogenic | — |
| RS2491124231 | Health Risk | Likely pathogenic | ADAMTS13-related disorder, ADAMTS13-related disorder |
| RS2491164601 | Health Risk | Likely pathogenic | ADAMTS13-related disorder, ADAMTS13-related disorder |
| RS2491212714 | Health Risk | Likely pathogenic | — |
| RS2491219604 | Health Risk | Likely pathogenic | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |