Gene entry
NPHS1
NPHS1 adhesion molecule, nephrin
- Chromosome
- 19
- Cytoband
- 19q13.12
- Variants (rsID)
- 34
NPHS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.12). Its official name is “NPHS1 adhesion molecule, nephrin”. The reference table lists 34 variants (rsID) for this gene.
Clinically classified variants
23 reference-table entries with clinical significance.
- rs113825926Benignsingle nucleotide variantCongenital nephrotic syndrome|Finnish congenital nephrotic syndrome
- rs33950747Benignsingle nucleotide variantFinnish congenital nephrotic syndrome|Congenital nephrotic syndrome
- rs34320609Benignsingle nucleotide variantCongenital nephrotic syndrome
- rs3814995Benignsingle nucleotide variantFinnish congenital nephrotic syndrome|Congenital nephrotic syndrome
- rs114615449Conflicting interpretationssingle nucleotide variantProteinuria|Finnish congenital nephrotic syndrome|Congenital nephrotic syndrome
- rs138173172Conflicting interpretationssingle nucleotide variantFinnish congenital nephrotic syndrome|Congenital nephrotic syndrome
- rs140808195Conflicting interpretationssingle nucleotide variantCongenital nephrotic syndrome|Finnish congenital nephrotic syndrome
- rs150038620Conflicting interpretationssingle nucleotide variantFinnish congenital nephrotic syndrome
- rs267606918Conflicting interpretationssingle nucleotide variantFinnish congenital nephrotic syndrome
- rs35238405Conflicting interpretationssingle nucleotide variantFinnish congenital nephrotic syndrome
- rs386833933Conflicting interpretationssingle nucleotide variantFinnish congenital nephrotic syndrome
- rs61731102Conflicting interpretationssingle nucleotide variantCongenital nephrotic syndrome|Finnish congenital nephrotic syndrome
- rs386833900Likely pathogenicsingle nucleotide variantFinnish congenital nephrotic syndrome
- rs137853042Pathogenicsingle nucleotide variantFinnish congenital nephrotic syndrome
- rs386833865Pathogenicsingle nucleotide variantFinnish congenital nephrotic syndrome
- rs386833871Pathogenicsingle nucleotide variantFinnish congenital nephrotic syndrome
- rs386833874Pathogenicsingle nucleotide variantFinnish congenital nephrotic syndrome
- rs386833889Pathogenicsingle nucleotide variantFinnish congenital nephrotic syndrome
- rs386833895Pathogenicsingle nucleotide variantFinnish congenital nephrotic syndrome|Nephrotic syndrome
- rs386833909Pathogenicsingle nucleotide variantFinnish congenital nephrotic syndrome|Nephrotic syndrome
- rs386833915Pathogenicsingle nucleotide variantFinnish congenital nephrotic syndrome
- rs386833861Uncertain significancesingle nucleotide variantFinnish congenital nephrotic syndrome
- rs386833934Uncertain significancesingle nucleotide variantFinnish congenital nephrotic syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
