FANCA Chromosome 16

FA complementation group A
1048 variants 1048 Health Risk

Upload your DNA to see your personal genotypes for variants in FANCA.

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
RS1260966020 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1268944859 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1270910813 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1274321707 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1278836130 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1281446470 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1283284704 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1285346388 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1304878514 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1307805145 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1311396994 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1318931629 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1336033143 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1337692923 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1338138752 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1343799019 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1353992080 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1354884515 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1369685302 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1375036674 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1394491958 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS140180549 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1406289451 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS140823801 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, FANCA-related disorder
RS1411237340 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1432415523 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1432988639 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, FANCA-related disorder
RS1438828232 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1456500627 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS147945881 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS148100796 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, FANCA-related disorder
RS1483121850 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS148473140 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1486237562 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1487360770 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1555533300 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555533693 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia
RS1555534521 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555536446 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1555537347 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555538571 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A, Malignant tumor of esophagus
RS1555538740 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1555547474 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555547935 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555547955 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555548428 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555548512 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555552006 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555556175 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555561294 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
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