Variant (rsID / SNP)

rs199933041

rs199933041 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEK8. Location: chromosome 17, position 27,065,002. Clinical significance in the table: Uncertain significance.

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Reference-table entries

NEK8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 17:27065002
Cytoband: 17q11.2
HGVS: NM_178170.3(NEK8):c.1055G>T (p.Arg352Leu)
Allele change: Missense_R352L

Associated conditions / phenotypes

Nephronophthisis 9|Renal-hepatic-pancreatic dysplasia 2|Nephronophthisis 9

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.