Variant (rsID / SNP)

rs33958626

rs33958626 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHP1. Location: chromosome 2, position 110,959,026. Clinical significance in the table: Benign.

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Reference-table entries

NPHP1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:110959026
Cytoband: 2q13
HGVS: NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr)
Allele change: Missense_P39T

Associated conditions / phenotypes

Nephronophthisis|Senior-Loken syndrome 1|Joubert syndrome with renal defect|Nephronophthisis 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.