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Variant (rsID / SNP)

rs386833865

NPHS1

rs386833865 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,339,610. 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
19:36339610
Cytoband
19q13.12
HGVS
NM_004646.4(NPHS1):c.1099C>T (p.Arg367Cys)
Allele change
Missense_R367C

Associated conditions / phenotypes

Finnish congenital nephrotic syndrome

Public references

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