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
RS2143107119 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2143109078 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2143139861 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143140176 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2143225807 Health Risk Likely pathogenic See cases, See cases
RS2143261385 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143331971 Health Risk Likely pathogenic —
RS2143340252 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143351760 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143367693 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2143422990 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143424712 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143432038 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2143433058 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143477277 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143656696 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2143677013 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2143678941 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143680554 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143710613 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2143711335 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2143711687 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151710687 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2544075505 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544075874 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544078399 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544078566 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544078574 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544082856 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544088140 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544088436 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544088649 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544094801 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544095343 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544105371 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544106209 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544113550 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544118926 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544119774 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544119797 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544120712 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544126059 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544129734 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544130417 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544138054 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544138264 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544156776 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544156828 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544178360 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544178386 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
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