FANCE Chromosome 6

FA complementation group E
106 variants 106 Health Risk

Upload your DNA to see your personal genotypes for variants in FANCE.

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 E. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"FA complementation groups|FA core complex"
Locus Type
gene with protein product
Location
6p21.31
Ensembl
ENSG00000112039
Associated Conditions (13)
Fanconi anemia complementation group E
Ovarian cancer
Inborn genetic diseases
FANCE-related disorder
Fanconi anemia
Exstrophy-epispadias complex
Malignant tumor of breast
Carcinoma of pancreas
Carcinoma of colon
Thyroid cancer
nonmedullary
1
Sarcoma
Key Variants
RS1225225979
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Ovarian cancer, Fanconi anemia complementation group E
Health Risk
RS1330517530
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Inborn genetic diseases, Ovarian cancer
Health Risk
RS138182352
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, FANCE-related disorder, Fanconi anemia complementation group E
Health Risk
RS139547269
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Fanconi anemia, Fanconi anemia complementation group E
Health Risk
RS139600847
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Exstrophy-epispadias complex, Ovarian cancer
Health Risk
RS1411748309
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Inborn genetic diseases, Fanconi anemia complementation group E
Health Risk
RS141268133
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Fanconi anemia complementation group E
Health Risk
RS141551053
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Ovarian cancer, Fanconi anemia complementation group E
Health Risk
RS142903218
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Fanconi anemia, FANCE-related disorder
Health Risk
RS143234424
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Fanconi anemia, Fanconi anemia complementation group E
Health Risk
RS145068586
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Malignant tumor of breast, Fanconi anemia complementation group E
Health Risk
RS1462766132
Conflicting classifications of pathogenicity
Fanconi anemia complementation group E, Fanconi anemia, Fanconi anemia complementation group E
Health Risk
All Variants (106)
RSID Category Clinical Significance Conditions
RS2150889955 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2150895088 Health Risk Likely pathogenic Fanconi anemia complementation group E, Thyroid cancer, nonmedullary
RS2150895090 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533645624 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533646569 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533646607 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533659213 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533667351 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533669831 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533681022 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533684676 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS754850404 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS755938406 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS764971229 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS916124670 Health Risk Likely pathogenic FANCE-related disorder, FANCE-related disorder
RS927227725 Health Risk Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS121434505 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1238925545 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1479445348 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1581696489 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767152512 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767313373 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767417868 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767433090 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767437018 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767491456 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2150896309 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2150896659 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2150898479 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2471785512 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533645433 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533659338 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533660159 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533667324 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533669319 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533669526 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS746340447 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS866005940 Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS121434506 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1272613429 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1324357775 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1408598940 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1561792535 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767499634 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1767552099 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2150885915 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533646556 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2533657776 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group E, Fanconi anemia
RS2533661699 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS747113644 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
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