Properdin Deficiency Explore Disorder's Alias
An X-linked dominant mode(s) within the Immune disorders category
Candidate Gene Information
An X-linked 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 | CFP/5199 | complement factor properdin | Xp11.23 | ChrX, NC_000023.11 (47623282..47630305, complement) |
7024 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 |