rs398122980

This is a stop gained variant in the NUMBL gene.

ClinVar annotation

Pathogenic★★★
4 submitters4 publications

Nephrotic syndrome, type 9 (NPHS9)

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About NUMBL

Involved in cytokine-mediated signaling pathway. Predicted to be active in cytoplasm and glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2025]

View all NUMBL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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