Variant (rsID / SNP)

rs141650477

rs141650477 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NEK8. Location: chromosome 17, position 27,065,703. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NEK8Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:27065703
Cytoband: 17q11.2
HGVS: NM_178170.3(NEK8):c.1237A>C (p.Met413Leu)
Allele change: Missense_M413L

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.