FAN1 Chromosome 15
FANCD2 and FANCI associated nuclease 1
Upload your DNA to see your personal genotypes for variants in FAN1.
What This Gene Does
This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Zinc fingers UBZ4 CCHC-type
Locus Type
gene with protein product
Location
15q13.3
Ensembl
ENSG00000198690
Associated Conditions (6)
Karyomegalic interstitial nephritis
FAN1-related disorder
Inborn genetic diseases
Hereditary breast ovarian cancer syndrome
Hereditary cancer
Kidney failure
Key Variants
RS111476645
Conflicting classifications of pathogenicity
Karyomegalic interstitial nephritis, FAN1-related disorder, Karyomegalic interstitial nephritis
Health Risk
RS142597944
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148404807
Conflicting classifications of pathogenicity
Hereditary breast ovarian cancer syndrome, FAN1-related disorder, Hereditary cancer
Health Risk
RS150393409
Conflicting classifications of pathogenicity
Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
Health Risk
RS184745027
Conflicting classifications of pathogenicity
Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
Health Risk
RS187082481
Conflicting classifications of pathogenicity
Karyomegalic interstitial nephritis, FAN1-related disorder, Karyomegalic interstitial nephritis
Health Risk
RS201153099
Conflicting classifications of pathogenicity
Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
Health Risk
RS372989498
Conflicting classifications of pathogenicity
Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
Health Risk
RS751703979
Conflicting classifications of pathogenicity
Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
Health Risk
RS752820596
Conflicting classifications of pathogenicity
Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
Health Risk
RS756840415
Conflicting classifications of pathogenicity
Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
Health Risk
RS772700881
Conflicting classifications of pathogenicity
Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111476645 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, FAN1-related disorder, Karyomegalic interstitial nephritis |
| RS142597944 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148404807 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, FAN1-related disorder, Hereditary cancer |
| RS150393409 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS184745027 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS187082481 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, FAN1-related disorder, Karyomegalic interstitial nephritis |
| RS201153099 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS372989498 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS751703979 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS752820596 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS756840415 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS772700881 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS781134478 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS866101912 | Health Risk | Conflicting classifications of pathogenicity | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS1305708707 | Health Risk | Likely pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS2062351829 | Health Risk | Likely pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS2140895653 | Health Risk | Likely pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS1408556558 | Health Risk | Pathogenic | — |
| RS1418844422 | Health Risk | Pathogenic | — |
| RS1566921085 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS2061959730 | Health Risk | Pathogenic | — |
| RS2140913969 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS2542572987 | Health Risk | Pathogenic | — |
| RS2542664835 | Health Risk | Pathogenic | — |
| RS387907279 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, FAN1-related disorder, Karyomegalic interstitial nephritis |
| RS387907280 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS746677293 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS750056424 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS758406790 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS765970053 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS767435461 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS767651793 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS778075842 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS953653119 | Health Risk | Pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS144469584 | Health Risk | Pathogenic/Likely pathogenic | FAN1-related disorder, Karyomegalic interstitial nephritis, FAN1-related disorder |
| RS199845994 | Health Risk | Pathogenic/Likely pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS748666715 | Health Risk | Pathogenic/Likely pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |
| RS761988851 | Health Risk | Pathogenic/Likely pathogenic | Kidney failure, Karyomegalic interstitial nephritis, Kidney failure |
| RS774499986 | Health Risk | Pathogenic/Likely pathogenic | Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis |