Variant (rsID / SNP)

rs145898152

rs145898152 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEK8. Location: chromosome 17, position 27,068,978. Clinical significance in the table: Benign.

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Reference-table entries

NEK8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:27068978
Cytoband: 17q11.2
HGVS: NM_178170.3(NEK8):c.2052G>A (p.Ser684=)
Allele change: Synonymous_S684S

Associated conditions / phenotypes

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.