Variant (rsID / SNP)

rs386833915

rs386833915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,333,296. 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: 19:36333296
Cytoband: 19q13.12
HGVS: NM_004646.4(NPHS1):c.2491C>T (p.Arg831Cys)
Allele change: Missense_R831C

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.