Variant (rsID / SNP)

rs150489788

rs150489788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,409,377. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NPHP3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 3:132409377
Cytoband: 3q22.1
HGVS: NM_153240.5(NPHP3):c.2688T>C (p.Tyr896=)
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.