Common Variable Immunodeficiency Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive 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 | TTC7A/57217 | tetratricopeptide repeat domain 7A | 2p21 | Chr2, NC_000002.12 (46915866..47076123) |
160258 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NFKB1/4790 | nuclear factor kappa B subunit 1 | 4q24 | Chr4, NC_000004.12 (102501359..102617302) |
115944 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | RAG2/5897 | recombination activating 2 | 11p12 | Chr11, NC_000011.10 (36590996..36598236, complement) |
7241 nt | 2 | 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 NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |