Information on C1QB
Alt. symbols:
Approved name: complement C1q B chain
Alt. names: complement component 1, q subcomponent, beta polypeptide, complement component 1, q subcomponent, B chain, complement C1q chain B
Location: 1p36.12: 22652762 - 22661637 (+)
Gene type: protein_coding, 13 transcripts.
Scores: LoFtool: 0.211000 | pLI: 0.08588105 | LOEUF: 1.044
Gene Ontology (GO)
- Molecular function:
- Cell component:
- Biological process:
Normal function
Dysfunction and disease
C1q deficiency [MIM:613652] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
C1QBD |
C1q deficiency type B | AR |
613652 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of C1QB
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000509305.6 | Select | protein_coding | 3 | Yes | 1098 | NM_000491,NM_001378156 | ||
| 206 | ENST00000695756.1 | protein_coding | No | NM_001371184 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 C1QB
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|