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Variant (rsID / SNP)

rs200161705

NEK1

rs200161705 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEK1. Location: chromosome 4, position 170,506,525. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NEK1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
4:170506525
Cytoband
4q33
HGVS
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)
Allele change
Missense_R261H

Associated conditions / phenotypes

Motor neuron disease|Short-rib thoracic dysplasia 6 with or without polydactyly|Amyotrophic lateral sclerosis, susceptibility to, 24

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.