THSD1 Chromosome 13
Thrombospondin type 1 domain containing 1
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What This Gene Does
The protein encoded by this gene contains a type 1 thrombospondin domain, which is found in a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Jan 2009]
Associated Conditions (5)
Non-immune hydrops fetalis
Lymphatic malformation 13
Aneurysm
intracranial berry
12
Key Variants
RS141140186
Conflicting classifications of pathogenicity
Health Risk
RS9536062
Conflicting classifications of pathogenicity
Non-immune hydrops fetalis, Lymphatic malformation 13, Non-immune hydrops fetalis
Health Risk
RS2547596958
Likely pathogenic
Lymphatic malformation 13, Lymphatic malformation 13
Health Risk
RS786205669
Likely pathogenic
Non-immune hydrops fetalis, Lymphatic malformation 13, Non-immune hydrops fetalis
Health Risk
RS1594095223
Pathogenic
Aneurysm, intracranial berry, 12
Health Risk
RS2547597183
Pathogenic
Lymphatic malformation 13, Lymphatic malformation 13
Health Risk
RS2547604512
Pathogenic
Lymphatic malformation 13, Lymphatic malformation 13
Health Risk
RS2547596894
Pathogenic/Likely pathogenic
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141140186 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS9536062 | Health Risk | Conflicting classifications of pathogenicity | Non-immune hydrops fetalis, Lymphatic malformation 13, Non-immune hydrops fetalis |
| RS2547596958 | Health Risk | Likely pathogenic | Lymphatic malformation 13, Lymphatic malformation 13 |
| RS786205669 | Health Risk | Likely pathogenic | Non-immune hydrops fetalis, Lymphatic malformation 13, Non-immune hydrops fetalis |
| RS1594095223 | Health Risk | Pathogenic | Aneurysm, intracranial berry, 12 |
| RS2547597183 | Health Risk | Pathogenic | Lymphatic malformation 13, Lymphatic malformation 13 |
| RS2547604512 | Health Risk | Pathogenic | Lymphatic malformation 13, Lymphatic malformation 13 |
| RS2547596894 | Health Risk | Pathogenic/Likely pathogenic | — |