Variant (rsID / SNP)

rs386833874

rs386833874 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,339,251. 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: 19:36339251
Cytoband: 19q13.12
HGVS: NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)
Allele change: Missense_R407W

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.