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Variant (rsID / SNP)

rs199947197

NEK1

rs199947197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEK1. Location: chromosome 4, position 170,345,819. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NEK1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
4:170345819
Cytoband
4q33
HGVS
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
Allele change
Nonsense_S1008X

Associated conditions / phenotypes

Short-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

Public references

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