Variant (rsID / SNP)

rs202115635

rs202115635 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEK1. Location: chromosome 4, position 170,509,870. Clinical significance in the table: other.

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Reference-table entries

NEK1Other

Clinical significance (as recorded): other
Variant type: single nucleotide variant
Chromosome / position: 4:170509870
Cytoband: 4q33
HGVS: NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter)
Allele change: Nonsense_R161X

Associated conditions / phenotypes

Motor neuron disease

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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