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
RS886052480 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia, Inborn genetic diseases
RS886052482 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia, Inborn genetic diseases
RS886052484 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia, Inborn genetic diseases
RS886052486 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia
RS886052487 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS924548467 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A, Inborn genetic diseases
RS9282684 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS933657325 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS962460972 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS988689175 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases, Fanconi anemia
RS994416299 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A, Inborn genetic diseases
RS1012809189 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1017086086 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1060501879 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1164540064 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1188082371 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1206013600 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1219402916 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1230207719 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1255001518 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1286812517 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1316078638 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1316950815 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1338018512 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1365019056 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1380850249 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1388128874 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia
RS1402841866 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1403770430 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS140412064 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1419169954 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1436768029 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1437697372 Health Risk Likely pathogenic FANCA-related disorder, FANCA-related disorder
RS1438990537 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1439817346 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1447363475 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1454055874 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS147176389 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1477653630 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1483028018 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia, Fanconi anemia complementation group A
RS1485075318 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS149551759 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, FANCA-related disorder
RS149851163 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555532943 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555532946 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555534060 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555535472 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555536361 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1555536390 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A, Fanconi anemia
RS1555540048 Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
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