FANCF Chromosome 11
FA complementation group F
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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 F. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"FA complementation groups|FA core complex"
Locus Type
gene with protein product
Location
11p14.3
Ensembl
ENSG00000183161
Associated Conditions (6)
Fanconi anemia
Fanconi anemia complementation group F
Hereditary cancer
Inborn genetic diseases
Ovarian cancer
FANCF-related disorder
Key Variants
RS1056134185
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS1156693900
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS145057187
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group F, Hereditary cancer
Health Risk
RS146219377
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group F, Inborn genetic diseases
Health Risk
RS146975768
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group F, Fanconi anemia
Health Risk
RS150216454
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS1590540654
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group F, Fanconi anemia
Health Risk
RS1858619779
Conflicting classifications of pathogenicity
Fanconi anemia complementation group F, Fanconi anemia complementation group F
Health Risk
RS199578614
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group F, Fanconi anemia
Health Risk
RS200416138
Conflicting classifications of pathogenicity
Fanconi anemia complementation group F, Fanconi anemia, Fanconi anemia complementation group F
Health Risk
RS201215734
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group F, Fanconi anemia
Health Risk
RS201382399
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group F, Inborn genetic diseases
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2133798073 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2133798188 | Health Risk | Pathogenic | Fanconi anemia complementation group F, Fanconi anemia complementation group F |
| RS2133798885 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia complementation group F, Fanconi anemia |
| RS2133798927 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2494866075 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia complementation group F, Fanconi anemia |
| RS2494869728 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2494871401 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2494871663 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS587778340 | Health Risk | Pathogenic | Fanconi anemia complementation group F, Fanconi anemia, FANCF-related disorder |
| RS730880277 | Health Risk | Pathogenic | Fanconi anemia complementation group F, Fanconi anemia, Fanconi anemia complementation group F |
| RS766279442 | Health Risk | Pathogenic | Fanconi anemia complementation group F, Fanconi anemia complementation group F |
| RS778546226 | Health Risk | Pathogenic | Fanconi anemia complementation group F, Fanconi anemia complementation group F |
| RS1479457172 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group F, Fanconi anemia, FANCF-related disorder |
| RS1565055497 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group F, Fanconi anemia, Fanconi anemia complementation group F |
| RS2133797177 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group F, Fanconi anemia, Fanconi anemia complementation group F |
| RS2494867744 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group F, Fanconi anemia, Fanconi anemia complementation group F |
| RS2494870839 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group F, Fanconi anemia, Fanconi anemia complementation group F |
| RS745495865 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group F, Fanconi anemia, Fanconi anemia |