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Variant (rsID / SNP)

rs750280281

NPHP3

rs750280281 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,441,011. 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
3:132441011
Cytoband
3q22.1
HGVS
NM_153240.5(NPHP3):c.189G>C (p.Gly63=)
Allele change
Silent

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.