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
RS756023006 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS758641682 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS760352719 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS765684774 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS766875860 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS772477788 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS773906241 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS775154397 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS775388912 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS775697743 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS776827467 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS777971510 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS779375100 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS781216924 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS797045570 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS878853663 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS879255255 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS891323617 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS911481295 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS925457555 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS938278864 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS984285795 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1015551647 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1018067067 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1035003476 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1036897594 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1045404649 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1057516430 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1060501878 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1060501880 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1158456786 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1166286386 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1172710952 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1173704265 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1174586234 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1183781456 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1184639006 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1185165443 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1189106357 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1192724266 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1199670660 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1205909298 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1206078224 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1216922486 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS121907930 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1220672299 Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1225564406 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1228394297 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1239354393 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1247378731 Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
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