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Variant (rsID / SNP)

rs138173172

NPHS1

rs138173172 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS1. Location: chromosome 19, position 36,332,686. 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
19:36332686
Cytoband
19q13.12
HGVS
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser)
Allele change
Missense_A916S

Associated conditions / phenotypes

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.