Variant (rsID / SNP)

rs119456963

rs119456963 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,407,701. 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: 3:132407701
Cytoband: 3q22.1
HGVS: NM_153240.5(NPHP3):c.2918G>A (p.Arg973Gln)
Allele change: Silent

Associated conditions / phenotypes

Renal-hepatic-pancreatic dysplasia 1

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.