FANCA Chromosome 16

FA complementation group A
1048 variants 1048 Health Risk

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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
RS2039330307 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039331837 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039334639 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039386741 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2039604081 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2039605345 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039641869 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039642419 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039644862 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039773398 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039775751 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039777078 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039844218 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039844441 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2039845956 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039846326 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040076730 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040089994 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040090895 Health Risk Pathogenic Fanconi anemia complementation group A, Pituitary stalk interruption syndrome, Fanconi anemia complementation group A
RS2040091643 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040091881 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2040092247 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2040092520 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040093330 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040094645 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040110823 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040229450 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040231133 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040232900 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040234338 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040352785 Health Risk Pathogenic —
RS2040352874 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2040370883 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040520107 Health Risk Pathogenic Fanconi anemia complementation group A, Squamous cell carcinoma of the head and neck, Fanconi anemia complementation group A
RS2040520715 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040599267 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2040601073 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040602804 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2040843894 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040845588 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040846500 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040847430 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040853528 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040855193 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040859131 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040861554 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2041024132 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2041026343 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2041026878 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2041095962 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
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