Information on FANCC
Basic details
Alt. symbols: FACC | FAC | FA3
Approved name: FA complementation group C
Alt. names: Fanconi anemia complementation group C
Location: 9q22.32: 95099054 - 95426796 (-)
Gene type: protein_coding, 25 transcripts.
Scores: LoFtool: 0.951000 | pLI: 0.00000000 | LOEUF: 1.043
Normal function
Dysfunction and disease
Fanconi anemia, complementation group C [MIM:227645] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FANCC |
Fanconi anemia, complementation group C | AR |
227645 |
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 FANCC
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000375305.6 | CCDS35071 | protein_coding | 15 | No | 4533 | NM_001243743 | ||
| 201 | ENST00000289081.8 | 1 | CCDS35071 | Select | protein_coding | 15 | Yes | 4592 | NM_000136 |
| 210 | ENST00000490972.7 | CCDS75861 | protein_coding | 14 | No | 2387 | NM_001243744 |
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 FANCC
| ID | Year | Title | Journal | PMID | Variants |
|---|