Variant (rsID / SNP)

rs113825926

rs113825926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,340,009. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPHS1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:36340009
Cytoband: 19q13.12
HGVS: NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile)
Allele change: Missense_T294I

Associated conditions / phenotypes

Congenital nephrotic syndrome|Finnish congenital 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.