Information on CFB
Basic details
Alt. symbols: BFD | BF | H2-Bf
Approved name: complement factor B
Alt. names: B-factor, properdin
Location: 6p21.33: 31945650 - 31952086 (+)
Gene type: protein_coding, 21 transcripts.
Scores: LoFtool: 0.370000 | pLI: 0.00097886 | LOEUF: 0.522
Normal function
Dysfunction and disease
?Complement factor B deficiency [MIM:615561] | {Macular degeneration, age-related, 14, reduced risk of} [MIM:615489] | {Hemolytic uremic syndrome, atypical, susceptibility to, 4} [MIM:612924] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
aHUS4 |
Hemolytic uremic syndrome, atypical, susceptibility to, 4 | AD |
Gain of Function | 612924 |
0 (0 fams) |
| CFBD |
Complement factor B deficiency | AR |
Loss of Function | 615561 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of CFB
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 271 | ENST00000425368.7 | 1 | CCDS4729 | Select | protein_coding | 18 | Yes | 2476 | NM_001710 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in CFB
| ID | Year | Title | Journal | PMID | Variants |
|---|