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Variant (rsID / SNP)

rs12123397

NPHS2

rs12123397 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NPHS2. Location: chromosome 1, position 179,544,913. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

NPHS2Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:179544913
Cytoband
1q25.2
HGVS
NM_014625.4(NPHS2):c.87C>G (p.Ala29=)
Allele change
Synonymous_A29A

Associated conditions / phenotypes

Nephrotic syndrome, type 2|Steroid-resistant nephrotic syndrome

Public references

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