NEK1 Chromosome 4
NIMA related kinase 1
Upload your DNA to see your personal genotypes for variants in NEK1.
What This Gene Does
The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
NIMA related kinase family
Locus Type
gene with protein product
Location
4q33
Ensembl
ENSG00000137601
Associated Conditions (14)
Short-rib thoracic dysplasia 6 with or without polydactyly
NEK1-related disorder
Motor neuron disease
Inborn genetic diseases
Type IV short rib polydactyly syndrome
Mohr syndrome
Amyotrophic lateral sclerosis
susceptibility to
24
Connective tissue disorder
Ovarian serous cystadenocarcinoma
Jeune thoracic dystrophy
Asphyxiating thoracic dystrophy 3
Short rib-polydactyly syndrome
Key Variants
RS10034957
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS1131690778
Conflicting classifications of pathogenicity
Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly, Motor neuron disease
Health Risk
RS115005766
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Inborn genetic diseases
Health Risk
RS1234437874
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS1301705612
Conflicting classifications of pathogenicity
Type IV short rib polydactyly syndrome, Short-rib thoracic dysplasia 6 with or without polydactyly, Mohr syndrome
Health Risk
RS139433990
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS141491586
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS146569517
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS1554075300
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS189186475
Conflicting classifications of pathogenicity
Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder
Health Risk
RS190807750
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
RS192372022
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder, Short-rib thoracic dysplasia 6 with or without polydactyly
Health Risk
All Variants (138)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS10034957 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS1131690778 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly, Motor neuron disease |
| RS115005766 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Inborn genetic diseases |
| RS1234437874 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS1301705612 | Health Risk | Conflicting classifications of pathogenicity | Type IV short rib polydactyly syndrome, Short-rib thoracic dysplasia 6 with or without polydactyly, Mohr syndrome |
| RS139433990 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS141491586 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS146569517 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS1554075300 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS189186475 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder |
| RS190807750 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS192372022 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS199522035 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder |
| RS199827465 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly, Motor neuron disease |
| RS200161705 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis |
| RS200619983 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS200643637 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS200710438 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS200769726 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder |
| RS201175678 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS201350526 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS201587614 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS201726561 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Inborn genetic diseases |
| RS201793759 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS2546393089 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS34324114 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly, Motor neuron disease |
| RS35222922 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder, NEK1-related disorder |
| RS35503975 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS35763578 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS368032168 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS369725706 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Amyotrophic lateral sclerosis, susceptibility to |
| RS370713361 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS371084271 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS372585344 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis, susceptibility to, 24 |
| RS373252814 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS374890006 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS375173827 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder |
| RS376870683 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS377607698 | Health Risk | Conflicting classifications of pathogenicity | Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly, Motor neuron disease |
| RS529848109 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS551275723 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS56077602 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder, NEK1-related disorder |
| RS56252746 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS56346829 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS574204412 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS61737748 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS745526568 | Health Risk | Conflicting classifications of pathogenicity | Connective tissue disorder, Short-rib thoracic dysplasia 6 with or without polydactyly, Connective tissue disorder |
| RS752029300 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS752582295 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Inborn genetic diseases, Short-rib thoracic dysplasia 6 with or without polydactyly |
| RS755160503 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly |