Variant (rsID / SNP)

rs1410592

rs1410592 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS2. Location: chromosome 1, position 179,520,506. Clinical significance in the table: Benign.

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Reference-table entries

NPHS2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:179520506
Cytoband: 1q25.2
HGVS: NM_014625.4(NPHS2):c.954C>T (p.Ala318=)
Allele change: Silent

Associated conditions / phenotypes

Nephrotic syndrome, type 2|Steroid-resistant nephrotic syndrome

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.