Variant (rsID / SNP)

rs74315348

rs74315348 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS2. Location: chromosome 1, position 179,521,740. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NPHS2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:179521740
Cytoband: 1q25.2
HGVS: NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
Allele change: Silent

Associated conditions / phenotypes

Nephrotic syndrome, type 2

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.