FANCI Chromosome 15
FA complementation group I
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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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
FA complementation groups
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000140525
Associated Conditions (15)
Fanconi anemia
Fanconi anemia complementation group I
FANCI-related disorder
Gastric cancer
Familial cancer of breast
Hereditary cancer-predisposing syndrome
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Uterine corpus endometrial carcinoma
Inborn genetic diseases
Fanconi anemia complementation group A
Neoplasm
Colorectal cancer
Key Variants
RS116380142
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, FANCI-related disorder
Health Risk
RS1173483373
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS121918163
Conflicting classifications of pathogenicity
Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I
Health Risk
RS1275616370
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia
Health Risk
RS1317953100
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS138026584
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, FANCI-related disorder
Health Risk
RS142906652
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia
Health Risk
RS1434575390
Conflicting classifications of pathogenicity
Health Risk
RS1443770274
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS1448880215
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS144908351
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, FANCI-related disorder
Health Risk
RS145165730
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group I, Gastric cancer
Health Risk
All Variants (283)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2053066105 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS2054158750 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia, Fanconi anemia complementation group I |
| RS2054482551 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS2505910996 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia complementation group I |
| RS2505984516 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS2506174334 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |
| RS2506174736 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS2506593745 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS2506958652 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |
| RS2507355048 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |
| RS2508408921 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |
| RS375656231 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |
| RS544848412 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS548947826 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS748000458 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |
| RS748003452 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS748961800 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS754986558 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS756691827 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS758062617 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS758856471 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS759398314 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS760412752 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia |
| RS761982725 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS762128147 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |
| RS769248873 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS770318990 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS771312042 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, FANCI-related disorder, Fanconi anemia complementation group I |
| RS772733800 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |
| RS772959965 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |
| RS773847168 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |
| RS907106559 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group I, Fanconi anemia |
| RS965134950 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group I, Fanconi anemia, Fanconi anemia complementation group I |