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Variant (rsID / SNP)

rs386833895

NPHS1

rs386833895 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,336,332. 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
19:36336332
Cytoband
19q13.12
HGVS
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
Allele change
Missense_C623F

Associated conditions / phenotypes

Finnish congenital nephrotic syndrome|Nephrotic syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.