CFD |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CFD (HGNC:2771) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- complement factor D
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- DF, PFD
- Alias symbols
- ADN
- %HI
- 76.28(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.68(Read more about gnomAD LOEUF score)
- Cytoband
- 19p13.3
- Genomic Coordinates
-
GRCh37/hg19: chr19:859664-863641 NCBI Ensembl UCSC GRCh38/hg38: chr19:859664-863641 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001928.4 ENST00000327726.11 (Read more about MANE Select)
- Function
- Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-757
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- recurrent Neisseria infections due to factor D deficiency Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)