rs1410592

This variant is located in the NPHS2 gene.

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ClinVar annotation

Benign★★★☆
12 submitters2 publications

not specified; Nephrotic syndrome, type 2; not provided; Steroid-resistant nephrotic syndrome

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About NPHS2

This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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