rs1057519347

This is a variant in the NUMBL gene that changes a arginine to an glutamine.

▶

ClinVar annotation

Pathogenic★★★☆

7 submitters6 publications

Nephrotic syndrome, type 9 (NPHS9)

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…