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
RS1555540076 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555542860 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555545553 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555548632 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555549535 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555552506 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia
RS1555554788 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555564436 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555564451 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555573118 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1555574913 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555581729 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1567593047 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1567601557 Health Risk Likely pathogenic Fanconi anemia, Neurodevelopmental abnormality, Fanconi anemia
RS1567645786 Health Risk Likely pathogenic —
RS1598116164 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia
RS1598120768 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1598129626 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1598136954 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1598190568 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2038474528 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2038478071 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2038478110 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038519770 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038618125 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2038967261 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039260545 Health Risk Likely pathogenic Fanconi anemia, Abnormality of blood and blood-forming tissues, Fanconi anemia
RS2039261844 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039275264 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2039603867 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039605605 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2039643136 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039768709 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039774778 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2039845162 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040091746 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040094761 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2040109989 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040352832 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia
RS2040369776 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040372065 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A, Fanconi anemia
RS2040523467 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040847223 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2040857662 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2041094594 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2049528619 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062087795 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2062169124 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2062172011 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2143088468 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
« Prev 1 ... 5 6 7 8 9 10 11 ... 21 Next »
Sign Up to Analyze Your DNA Log In