Familial Cold Autoinflammatory Syndrome(Cold urticaria) Explore Disorder's Alias
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 | NLRP12/91662 | NLR family pyrin domain containing 12 | 19q13.42 | Chr19, NC_000019.10 (53793584..53824403, complement) |
30820 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NLRP3/114548 | NLR family pyrin domain containing 3 | 1q44 | Chr1, NC_000001.11 (247416077..247448817) |
32741 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | PLCG2/5336 | phospholipase C gamma 2 | 16q23.3 | Chr16, NC_000016.10 (81779291..81962685) |
183395 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | NLRC4/58484 | NLR family CARD domain containing 4 | 2p22.3 | Chr2, NC_000002.12 (32224449..32265743, complement) |
41295 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |