Variant (rsID / SNP)

rs368138001

rs368138001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,403,595. Clinical significance in the table: Pathogenic.

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Reference-table entries

NPHP3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:132403595
Cytoband: 3q22.1
HGVS: NM_153240.5(NPHP3):c.3373C>T (p.Arg1125Ter)
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.