Thrombophilia Due To Thrombin Defect(Prothrombin thrombophilia)
An Autosomal dominant mode(s) within the Blood disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Blood disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | F2/2147 | coagulation factor II, thrombin | 11p11.2 | Chr11, NC_000011.10 (46719213..46739506) |
20294 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | F5/2153 | coagulation factor V | 1q24.2 | Chr1, NC_000001.11 (169511951..169586481, complement) |
74531 nt | 25 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities