Hereditary Antithrombin Deficiency(Antithrombin III deficiency) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Blood disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive 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 | SERPINC1/462 | serpin family C member 1 | 1q25.1 | Chr1, NC_000001.11 (173903800..173917327, complement) |
13528 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |