THSD4 Chromosome 15
Thrombospondin type 1 domain containing 4
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What This Gene Does
Predicted to enable hydrolase activity. Predicted to be an extracellular matrix structural constituent. Involved in microfibril assembly. Located in microfibril. Implicated in thoracic aortic aneurysm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
ADAMTS like
Locus Type
gene with protein product
Location
15q23
Ensembl
ENSG00000187720
Associated Conditions (4)
Familial thoracic aortic aneurysm and aortic dissection
THSD4-related disorder
Aortic aneurysm
familial thoracic 12
Key Variants
RS138125166
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, THSD4-related disorder, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS146042172
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 12
Health Risk
RS200317870
Conflicting classifications of pathogenicity
THSD4-related disorder, THSD4-related disorder
Health Risk
RS374099396
Conflicting classifications of pathogenicity
Health Risk
RS767807136
Conflicting classifications of pathogenicity
Aortic aneurysm, familial thoracic 12, Aortic aneurysm
Health Risk
RS930116181
Conflicting classifications of pathogenicity
Health Risk
RS2052914931
Likely pathogenic
Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
RS2140250054
Pathogenic
Aortic aneurysm, familial thoracic 12, Aortic aneurysm
Health Risk
RS2140250314
Pathogenic
Health Risk
RS2140274801
Pathogenic
Aortic aneurysm, familial thoracic 12, Aortic aneurysm
Health Risk
RS2140288609
Pathogenic
Aortic aneurysm, familial thoracic 12, Aortic aneurysm
Health Risk
RS2141129448
Pathogenic
Aortic aneurysm, familial thoracic 12, Aortic aneurysm
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138125166 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, THSD4-related disorder, Familial thoracic aortic aneurysm and aortic dissection |
| RS146042172 | Health Risk | Conflicting classifications of pathogenicity | Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm, familial thoracic 12 |
| RS200317870 | Health Risk | Conflicting classifications of pathogenicity | THSD4-related disorder, THSD4-related disorder |
| RS374099396 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767807136 | Health Risk | Conflicting classifications of pathogenicity | Aortic aneurysm, familial thoracic 12, Aortic aneurysm |
| RS930116181 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2052914931 | Health Risk | Likely pathogenic | Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection |
| RS2140250054 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 12, Aortic aneurysm |
| RS2140250314 | Health Risk | Pathogenic | — |
| RS2140274801 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 12, Aortic aneurysm |
| RS2140288609 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 12, Aortic aneurysm |
| RS2141129448 | Health Risk | Pathogenic | Aortic aneurysm, familial thoracic 12, Aortic aneurysm |