Variant (rsID / SNP)

rs112386774

rs112386774 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,406,007. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPHP3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:132406007
Cytoband: 3q22.1
HGVS: NM_153240.5(NPHP3):c.3189A>G (p.Lys1063=)
Allele change: Silent

Associated conditions / phenotypes

Nephronophthisis

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.