rs1114167447

This variant is located in the ARMC9 gene.

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ClinVar annotation

Conflicting Classifications
6 submitters2 publications

ARMC9-related Joubert syndrome; Joubert syndrome; 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]

View all ARMC9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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