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Variant (rsID / SNP)

rs114615449

NPHS1

rs114615449 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,336,398. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NPHS1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:36336398
Cytoband
19q13.12
HGVS
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)
Allele change
Missense_G601A

Associated conditions / phenotypes

Proteinuria|Finnish congenital nephrotic syndrome|Congenital nephrotic syndrome

Public references

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