Variant (rsID / SNP)

rs182135982

rs182135982 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,418,832. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NPHP3Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:132418832
Cytoband: 3q22.1
HGVS: NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter)
Allele change: Silent

Associated conditions / phenotypes

Nephronophthisis|Renal-hepatic-pancreatic dysplasia 1|NPHP3-related Meckel-like syndrome|Nephronophthisis 3

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.