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
RS2544202887 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS2544226343 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544270683 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2544273183 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2544362800 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544365253 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS2544389395 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS372254398 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, FANCA-related disorder
RS374030577 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, FANCA-related disorder, Fanconi anemia complementation group A
RS574034197 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS587778319 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS745882980 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS746176365 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS746236214 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS747823528 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia
RS747892390 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS748624754 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS751572448 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS752457319 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, FANCA-related disorder
RS752864343 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS753700179 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS754104046 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS755922289 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS756140957 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS757504102 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS758341181 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS758528624 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS759877008 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS761341952 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, FANCA-related disorder
RS762526878 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS762902309 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS764122657 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS766643461 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS769047348 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS769580546 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS772359099 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS772751654 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS776391208 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS776969626 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS780825099 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, See cases
RS786204246 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS868273545 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, See cases, Fanconi anemia
RS878853660 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS915983602 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Neuroblastoma, Fanconi anemia
RS937874201 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS940187828 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS947311062 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS986710868 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
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