Variant (rsID / SNP)

rs6794496

rs6794496 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP3. Location: chromosome 3, position 132,401,600. Clinical significance in the table: Benign.

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Reference-table entries

NPHP3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:132401600
Cytoband: 3q22.1
HGVS: NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=)
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.