DOCK7 Chromosome 1
Dedicator of cytokinesis 7
Upload your DNA to see your personal genotypes for variants in DOCK7.
What This Gene Does
The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
DOCK family Rho GEFs
Locus Type
gene with protein product
Location
1p31.3
Ensembl
ENSG00000116641
Associated Conditions (6)
Developmental and epileptic encephalopathy
23
Inborn genetic diseases
DOCK7-related disorder
Fetal akinesia deformation sequence 3
Thymoma
Key Variants
RS1166858046
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, Inborn genetic diseases
Health Risk
RS148287864
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy
Health Risk
RS199708701
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, Inborn genetic diseases
Health Risk
RS201785444
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, Inborn genetic diseases
Health Risk
RS368422761
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, DOCK7-related disorder
Health Risk
RS373839094
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, Inborn genetic diseases
Health Risk
RS376119113
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy
Health Risk
RS377719435
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy
Health Risk
RS59558623
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, DOCK7-related disorder
Health Risk
RS747830413
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy
Health Risk
RS750334480
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, Inborn genetic diseases
Health Risk
RS760052391
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy
Health Risk
All Variants (91)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553156203 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS1557855477 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS1557864817 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS1646236200 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS1646379664 | Health Risk | Pathogenic | — |
| RS2149259725 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2149298999 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2149320961 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2149340429 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2149393749 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2149439433 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2149480893 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2149480897 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2149499164 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2149679279 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2522963905 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2523071377 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2523280337 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2523768622 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2523770658 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2524027479 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2524028270 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2524233174 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2524333986 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2524387018 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2524777893 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2524782520 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2524846772 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2524999769 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS587777484 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS587777485 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS756535975 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS778159924 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS886037665 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS886037666 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS1057520100 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS1438270423 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS1644562145 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS2149301822 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS758111714 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |
| RS770283117 | Health Risk | Pathogenic/Likely pathogenic | Developmental and epileptic encephalopathy, 23, Developmental and epileptic encephalopathy |