FANCA Chromosome 16
FA complementation group A
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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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"FA complementation groups|FA core complex"
Locus Type
gene with protein product
Location
16q24.3
Ensembl
ENSG00000187741
Associated Conditions (25)
Fanconi anemia
Fanconi anemia complementation group A
Congenital portosystemic shunt
FANCA-related disorder
Inborn genetic diseases
Neuroblastoma
Microcephaly
Hepatoblastoma
Ovarian cancer
Clear cell carcinoma of kidney
Familial cancer of breast
Thymoma
Sarcoma
Premature ovarian failure
Hereditary cancer-predisposing syndrome
Neurodevelopmental abnormality
Abnormality of blood and blood-forming tissues
See cases
Gastric cancer
Malignant tumor of esophagus
+5 more conditions
Key Variants
RS1030329914
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
Health Risk
RS1057521855
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS1060501876
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group A, Congenital portosystemic shunt
Health Risk
RS1060501887
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
Health Risk
RS111271660
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group A, FANCA-related disorder
Health Risk
RS11275235
Conflicting classifications of pathogenicity
Health Risk
RS113051956
Conflicting classifications of pathogenicity
Fanconi anemia, FANCA-related disorder, Fanconi anemia
Health Risk
RS1159267877
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS1172262659
Conflicting classifications of pathogenicity
Fanconi anemia, Inborn genetic diseases, Fanconi anemia
Health Risk
RS1190325114
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia
Health Risk
RS1209384219
Conflicting classifications of pathogenicity
Fanconi anemia complementation group A, Fanconi anemia, Inborn genetic diseases
Health Risk
RS1216426444
Conflicting classifications of pathogenicity
Fanconi anemia complementation group A, Neuroblastoma, Fanconi anemia complementation group A
Health Risk
All Variants (1048)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2041096125 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A |
| RS2041098068 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2041101017 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia |
| RS2041101553 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2041101804 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2041137887 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A |
| RS2041138210 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2041143697 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062027006 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A |
| RS2062043035 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A |
| RS2062046121 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2062047006 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A |
| RS2062054591 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062057035 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062057713 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062060149 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062066871 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062067810 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062069547 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062087915 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062089336 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A |
| RS2062089925 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062090760 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062115605 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062115822 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062169220 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2062169243 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2062172051 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A |
| RS2062172394 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia |
| RS2062210802 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A |
| RS2062211067 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2143060935 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143061441 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143062233 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143106071 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143106211 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143106522 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia |
| RS2143128062 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143128346 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143137762 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143138138 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143138507 | Health Risk | Pathogenic | Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A |
| RS2143138748 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143138814 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143139061 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143139284 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143163267 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia |
| RS2143163813 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |
| RS2143260759 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia |
| RS2143288542 | Health Risk | Pathogenic | Fanconi anemia, Fanconi anemia |