Variant (rsID / SNP)

rs386833909

rs386833909 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,334,481. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPHS1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:36334481
Cytoband: 19q13.12
HGVS: NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
Allele change: Missense_R743C

Associated conditions / phenotypes

Finnish congenital nephrotic syndrome|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.