DCAF17 Chromosome 2
DDB1 and CUL4 associated factor 17
Upload your DNA to see your personal genotypes for variants in DCAF17.
What This Gene Does
This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
DDB1 and CUL4 associated factors
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000115827
Associated Conditions (5)
Woodhouse-Sakati syndrome
DCAF17-related disorder
Inborn genetic diseases
Neurodegeneration with brain iron accumulation
Papillary renal cell carcinoma type 1
Key Variants
RS114519296
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
RS139655160
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
RS1414349657
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
RS150095386
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome
Health Risk
RS192861143
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
RS199742600
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome
Health Risk
RS200189652
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome
Health Risk
RS201346228
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Inborn genetic diseases, Woodhouse-Sakati syndrome
Health Risk
RS201494527
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome
Health Risk
RS202231211
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Inborn genetic diseases, DCAF17-related disorder
Health Risk
RS368707741
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
RS377182072
Conflicting classifications of pathogenicity
Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114519296 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS139655160 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1414349657 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS150095386 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome |
| RS192861143 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS199742600 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome |
| RS200189652 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome |
| RS201346228 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Inborn genetic diseases, Woodhouse-Sakati syndrome |
| RS201494527 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome |
| RS202231211 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Inborn genetic diseases, DCAF17-related disorder |
| RS368707741 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS377182072 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS557741620 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, DCAF17-related disorder, Woodhouse-Sakati syndrome |
| RS570110822 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS58636477 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS587780328 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS766629618 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Inborn genetic diseases, Woodhouse-Sakati syndrome |
| RS774566117 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS778241115 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS78488864 | Health Risk | Conflicting classifications of pathogenicity | Woodhouse-Sakati syndrome, Inborn genetic diseases, Woodhouse-Sakati syndrome |
| RS1185777867 | Health Risk | Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1470826074 | Health Risk | Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1559289518 | Health Risk | Likely pathogenic | — |
| RS2529603438 | Health Risk | Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529687764 | Health Risk | Likely pathogenic | Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation |
| RS2529688102 | Health Risk | Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529720274 | Health Risk | Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529794997 | Health Risk | Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529807772 | Health Risk | Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS748029308 | Health Risk | Likely pathogenic | Woodhouse-Sakati syndrome, Papillary renal cell carcinoma type 1, Woodhouse-Sakati syndrome |
| RS780493577 | Health Risk | Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS786205638 | Health Risk | Likely pathogenic | — |
| RS879253799 | Health Risk | Likely pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1164262350 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1235902967 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1279603411 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1314048356 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1559245286 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1559264135 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1559289651 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1574303761 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS1696575671 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2105706833 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529600613 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529656673 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529700389 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529700532 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529700694 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529720590 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |
| RS2529720789 | Health Risk | Pathogenic | Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome |