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 |
|---|---|---|---|
| RS11575933 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1183963868 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138014548 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS138489501 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS138699340 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome |
| RS139214644 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Inborn genetic diseases, ADAMTS13-related disorder |
| RS1393965473 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS139951127 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS140628579 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS140639242 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Thrombus, ADAMTS13-related disorder |
| RS141811556 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS142214608 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS142237685 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142293909 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Upshaw-Schulman syndrome, Inborn genetic diseases |
| RS142489534 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS13-related disorder, Inborn genetic diseases, Upshaw-Schulman syndrome |
| RS142570561 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS142779872 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS144178018 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS144808448 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS144916851 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS145175796 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome |
| RS145825553 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, See cases, Ovarian serous cystadenocarcinoma |
| RS146073007 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS146314458 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS147732725 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Inborn genetic diseases, ADAMTS13-related disorder |
| RS148312697 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, ADAMTS13-related disorder, Upshaw-Schulman syndrome |
| RS148365271 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS148472763 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS148500446 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148734700 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS13-related disorder, Upshaw-Schulman syndrome, ADAMTS13-related disorder |
| RS149953167 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS151048660 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1554795505 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS1840934191 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Upshaw-Schulman syndrome, Inborn genetic diseases |
| RS184864675 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200230025 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS200406381 | Health Risk | Conflicting classifications of pathogenicity | ADAMTS13-related disorder, Upshaw-Schulman syndrome, Inborn genetic diseases |
| RS200547311 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS201607490 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS2490512531 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS2491101006 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875302 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS281875337 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS34256013 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, ADAMTS13-related disorder, Upshaw-Schulman syndrome |
| RS36219902 | Health Risk | Conflicting classifications of pathogenicity | Cervical cancer, Cervical cancer |
| RS36220240 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Atypical hemolytic-uremic syndrome, ADAMTS13-related disorder |
| RS36222275 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS367627378 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Upshaw-Schulman syndrome |
| RS369510827 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370060687 | Health Risk | Conflicting classifications of pathogenicity | Upshaw-Schulman syndrome, Inborn genetic diseases, Upshaw-Schulman syndrome |