Variant (rsID / SNP)

rs386833900

rs386833900 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,335,249. Clinical significance in the table: Likely pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

NPHS1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:36335249
Cytoband: 19q13.12
HGVS: NM_004646.4(NPHS1):c.2043G>T (p.Trp681Cys)
Allele change: Missense_W681C

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.