FANCE Chromosome 6
FA complementation group E
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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 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 |
|---|---|---|---|
| RS1225225979 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Ovarian cancer, Fanconi anemia complementation group E |
| RS1330517530 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Inborn genetic diseases, Ovarian cancer |
| RS138182352 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, FANCE-related disorder, Fanconi anemia complementation group E |
| RS139547269 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, Fanconi anemia complementation group E |
| RS139600847 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Exstrophy-epispadias complex, Ovarian cancer |
| RS1411748309 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Inborn genetic diseases, Fanconi anemia complementation group E |
| RS141268133 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS141551053 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Ovarian cancer, Fanconi anemia complementation group E |
| RS142903218 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, FANCE-related disorder |
| RS143234424 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, Fanconi anemia complementation group E |
| RS145068586 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Malignant tumor of breast, Fanconi anemia complementation group E |
| RS1462766132 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, Fanconi anemia complementation group E |
| RS147356927 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, FANCE-related disorder |
| RS147572271 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, Fanconi anemia complementation group E |
| RS149097636 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, FANCE-related disorder |
| RS1767509933 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS185230199 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Inborn genetic diseases, Fanconi anemia complementation group E |
| RS189384185 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS201970876 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Inborn genetic diseases, Fanconi anemia complementation group E |
| RS368422520 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, FANCE-related disorder |
| RS374493565 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS375195621 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, Fanconi anemia complementation group E |
| RS376243211 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Fanconi anemia complementation group E, Inborn genetic diseases |
| RS45524646 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS552241929 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, Fanconi anemia complementation group E |
| RS557021652 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS587778335 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, FANCE-related disorder |
| RS587778337 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E, Carcinoma of pancreas |
| RS746770705 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Inborn genetic diseases, Fanconi anemia complementation group E |
| RS747692546 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS752797466 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Inborn genetic diseases, Fanconi anemia complementation group E |
| RS755421532 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS756018135 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS757051494 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS758238449 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Inborn genetic diseases, Fanconi anemia complementation group E |
| RS758380315 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Inborn genetic diseases, Fanconi anemia complementation group E |
| RS759124595 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS763151358 | Health Risk | Conflicting classifications of pathogenicity | Carcinoma of colon, Fanconi anemia complementation group E, Carcinoma of colon |
| RS772678337 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS775767809 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS779336261 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia, Ovarian cancer |
| RS886061328 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS886061332 | Health Risk | Conflicting classifications of pathogenicity | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS1258879701 | Health Risk | Likely pathogenic | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS1263409404 | Health Risk | Likely pathogenic | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS1357632829 | Health Risk | Likely pathogenic | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS1480350743 | Health Risk | Likely pathogenic | Fanconi anemia complementation group E, Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS1581696699 | Health Risk | Likely pathogenic | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS1767163932 | Health Risk | Likely pathogenic | Fanconi anemia complementation group E, Fanconi anemia complementation group E |
| RS1767507722 | Health Risk | Likely pathogenic | Fanconi anemia complementation group E, Fanconi anemia complementation group E |