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
RS1555571116 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555575253 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555580427 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1567592815 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567598488 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567616135 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567618264 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1567621042 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1567628967 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1567642367 Health Risk Pathogenic Fanconi anemia, Fanconi anemia, Ovarian serous cystadenocarcinoma
RS1598067532 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1598127082 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1598184500 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1598190143 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1598191053 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS183350210 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia
RS199599393 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2038398296 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038407808 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038408351 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038409656 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2038409874 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2038511531 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038517512 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038522097 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038617702 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038628210 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038844292 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038844790 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038967116 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038967521 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038968872 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038969261 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039074823 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039075542 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039076227 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2039077331 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2039077507 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039078843 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2039156731 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2039158032 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2039254077 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039260502 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039266434 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039267300 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039275333 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039276663 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039278551 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2039278966 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039290343 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
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