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
RS2544178473 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544178554 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544178563 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544186932 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544187093 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544187460 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544195824 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544197097 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544197474 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544207436 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544207517 Health Risk Likely pathogenic —
RS2544207530 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544213738 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544226349 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544243344 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544250338 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544270498 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544270776 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544270975 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544275708 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544275712 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544303349 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544322133 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544322402 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544331670 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544348378 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544362718 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544362904 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544364915 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544389682 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544390320 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2544390432 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544390554 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544390610 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544395103 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544395257 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS34885858 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS587783028 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS746514288 Health Risk Likely pathogenic Fanconi anemia, Gastric cancer, Fanconi anemia
RS746518509 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS746997654 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS747645948 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS747928827 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS748856769 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia
RS751076878 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS752126515 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS752837228 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS753063086 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, FANCA-related disorder
RS753728435 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A, Fanconi anemia
RS755104393 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
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