rs750247691

This is a variant in the ARMC9 gene that changes a glycine to an arginine.

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ClinVar annotation

Pathogenic★☆☆☆
5 submitters2 publications

ARMC9-related Joubert syndrome; Familial aplasia of the vermis; Joubert syndrome 30

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About ARMC9

Predicted to be involved in cilium assembly and positive regulation of smoothened signaling pathway. Located in centriole and ciliary basal body. Implicated in Joubert syndrome 30. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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