Variant (rsID / SNP)

rs386833861

rs386833861 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,339,690. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPHS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:36339690
Cytoband: 19q13.12
HGVS: NM_004646.4(NPHS1):c.1019C>A (p.Pro340His)
Allele change: Missense_P340H

Associated conditions / phenotypes

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.