Hereditary Angioedema With C1Inh Deficiency(Angioedema, hereditary, 1 and 2)
An Autosomal dominant mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Immune 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 GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities