Gene entry
NEK1
NIMA related kinase 1
- Chromosome
- 4
- Cytoband
- 4q33
- Variants (rsID)
- 31
NEK1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q33). Its official name is “NIMA related kinase 1”. The reference table lists 31 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs34099167Benignsingle nucleotide variantShort-rib thoracic dysplasia 6 with or without polydactyly
- rs34540355Benignsingle nucleotide variantShort-rib thoracic dysplasia 6 with or without polydactyly|Connective tissue disorder
- rs74557505Benignsingle nucleotide variant
- rs7655924Benignsingle nucleotide variantShort-rib thoracic dysplasia 6 with or without polydactyly
- rs10034957Conflicting interpretationssingle nucleotide variantShort-rib thoracic dysplasia 6 with or without polydactyly
- rs200161705Conflicting interpretationssingle nucleotide variantMotor neuron disease|Short-rib thoracic dysplasia 6 with or without polydactyly|Amyotrophic lateral sclerosis, susceptibility to, 24
- rs34324114Conflicting interpretationssingle nucleotide variantMotor neuron disease|Short-rib thoracic dysplasia 6 with or without polydactyly
- rs202115635Othersingle nucleotide variantMotor neuron disease
- rs199947197Pathogenicsingle nucleotide variantShort-rib thoracic dysplasia 6 with or without polydactyly|Amyotrophic lateral sclerosis, susceptibility to, 24|Amyotrophic lateral sclerosis, susceptibility to, 24|Short-rib thoracic dysplasia 6 with or without polydactyly
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
