Hereditary Angioedema Type 1(Deficiency of C1 esterase inhibitor)
An Autosomal dominant, Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Multisystemic 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 | SERPING1/710 | serpin family G member 1 | 11q12.1 | Chr11, NC_000011.10 (57597685..57614848) |
17164 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities