Variant (rsID / SNP)

rs386833889

rs386833889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,336,613. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

NPHS1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:36336613
Cytoband: 19q13.12
HGVS: NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn)
Allele change: Missense_S572N

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.