THBD Chromosome 20
Thrombomodulin
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What This Gene Does
The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|C-type lectin domain containing"
Locus Type
gene with protein product
Location
20p11.21
Ensembl
ENSG00000178726
Associated Conditions (9)
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Atypical hemolytic-uremic syndrome
Thrombomodulin-related bleeding disorder
Inborn genetic diseases
THBD-related disorder
Abnormal thrombosis
Kidney disorder
Abnormal bleeding
Thrombocytopenia
Key Variants
RS1008621697
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Health Risk
RS1300304839
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome
Health Risk
RS144853671
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146549103
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, THBD-related disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Health Risk
RS147377392
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, THBD-related disorder
Health Risk
RS1600410451
Conflicting classifications of pathogenicity
Abnormal thrombosis, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
Health Risk
RS1800576
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome, THBD-related disorder
Health Risk
RS1800578
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome, Thrombomodulin-related bleeding disorder
Health Risk
RS199987510
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Health Risk
RS2515204157
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS3176124
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Health Risk
RS372556297
Conflicting classifications of pathogenicity
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Inborn genetic diseases, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1008621697 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly |
| RS1300304839 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome |
| RS144853671 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146549103 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, THBD-related disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly |
| RS147377392 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, THBD-related disorder |
| RS1600410451 | Health Risk | Conflicting classifications of pathogenicity | Abnormal thrombosis, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder |
| RS1800576 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome, THBD-related disorder |
| RS1800578 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome, Thrombomodulin-related bleeding disorder |
| RS199987510 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly |
| RS2515204157 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS3176124 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly |
| RS372556297 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Inborn genetic diseases, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly |
| RS373741115 | Health Risk | Conflicting classifications of pathogenicity | Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Inborn genetic diseases |
| RS538290084 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, THBD-related disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly |
| RS540826492 | Health Risk | Conflicting classifications of pathogenicity | Kidney disorder, Kidney disorder |
| RS546519295 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, Inborn genetic diseases |
| RS749840435 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS752809089 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754342536 | Health Risk | Conflicting classifications of pathogenicity | Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Inborn genetic diseases |
| RS755489770 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757422951 | Health Risk | Conflicting classifications of pathogenicity | Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Inborn genetic diseases |
| RS758686992 | Health Risk | Conflicting classifications of pathogenicity | Thrombomodulin-related bleeding disorder, Thrombomodulin-related bleeding disorder |
| RS76135678 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly |
| RS762313482 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763737197 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, Inborn genetic diseases |
| RS767341182 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder, Inborn genetic diseases |
| RS775568682 | Health Risk | Conflicting classifications of pathogenicity | Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Atypical hemolytic-uremic syndrome with thrombomodulin anomaly |
| RS996281789 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1600409143 | Health Risk | Likely pathogenic | Abnormal bleeding, Thrombocytopenia, Thrombomodulin-related bleeding disorder |
| RS1600409323 | Health Risk | Likely pathogenic | Abnormal bleeding, Thrombomodulin-related bleeding disorder, Abnormal bleeding |
| RS2122673257 | Health Risk | Pathogenic | Thrombomodulin-related bleeding disorder, Thrombomodulin-related bleeding disorder |