FANCC Chromosome 9
FA complementation group C
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What This Gene Does
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"FA complementation groups|FA core complex"
Locus Type
gene with protein product
Location
9q22.32
Ensembl
ENSG00000158169
Associated Conditions (16)
Fanconi anemia complementation group C
Fanconi anemia
Hereditary cancer-predisposing syndrome
FANCC-related disorder
Ovarian cancer
Malignant tumor of breast
Hereditary cancer
Fanconi anemia complementation group A
Hereditary breast ovarian cancer syndrome
Sarcoma
Gastric cancer
Ovarian serous cystadenocarcinoma
Uterine carcinosarcoma
Familial ovarian cancer
Melanoma
Carcinoma of colon
Key Variants
RS1057516298
Conflicting classifications of pathogenicity
Fanconi anemia complementation group C, Fanconi anemia, Hereditary cancer-predisposing syndrome
Health Risk
RS1057521714
Conflicting classifications of pathogenicity
Fanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
Health Risk
RS1057522128
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
Health Risk
RS1064793109
Conflicting classifications of pathogenicity
FANCC-related disorder, Hereditary cancer-predisposing syndrome, FANCC-related disorder
Health Risk
RS1064793110
Conflicting classifications of pathogenicity
Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
Health Risk
RS1064793625
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome
Health Risk
RS1064793837
Conflicting classifications of pathogenicity
Fanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia
Health Risk
RS1064794691
Conflicting classifications of pathogenicity
Fanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
Health Risk
RS1197938479
Conflicting classifications of pathogenicity
Fanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia
Health Risk
RS1224625808
Conflicting classifications of pathogenicity
Fanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
Health Risk
RS1228873579
Conflicting classifications of pathogenicity
Fanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia
Health Risk
RS1228886763
Conflicting classifications of pathogenicity
Fanconi anemia complementation group C, Fanconi anemia, Fanconi anemia complementation group C
Health Risk
All Variants (371)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2542844483 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C |
| RS587777945 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome, FANCC-related disorder |
| RS587779909 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group C, Malignant tumor of breast |
| RS730881708 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Fanconi anemia, Hereditary cancer-predisposing syndrome |
| RS730881709 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome |
| RS730881710 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Fanconi anemia, Hereditary cancer-predisposing syndrome |
| RS730881731 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome |
| RS751757203 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Fanconi anemia, Fanconi anemia complementation group C |
| RS758116389 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Fanconi anemia, Fanconi anemia complementation group C |
| RS762501862 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group C, Fanconi anemia |
| RS766105286 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group C, Fanconi anemia |
| RS769039987 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome |
| RS774209201 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Fanconi anemia, Hereditary cancer-predisposing syndrome |
| RS776054094 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Fanconi anemia, Fanconi anemia complementation group C |
| RS776529713 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Fanconi anemia, Fanconi anemia complementation group C |
| RS777918411 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Fanconi anemia, Fanconi anemia complementation group C |
| RS781542763 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Fanconi anemia, Hereditary cancer-predisposing syndrome |
| RS794726667 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Fanconi anemia, Hereditary cancer-predisposing syndrome |
| RS867319477 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Fanconi anemia, FANCC-related disorder |
| RS878853671 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C |
| RS944083227 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group C, Hereditary cancer-predisposing syndrome, Fanconi anemia |