Cryopyrin Associated Periodic Syndrome(Cryopyrin-associated periodic syndrome)
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 | 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 |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |