rs869312866

This is a variant in the KCTD19 gene that changes a threonine to an asparagine.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter1 publication

Cerebral visual impairment and intellectual disability

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About KCTD19

Predicted to enable identical protein binding activity. Predicted to be involved in male meiotic nuclear division. Predicted to be located in nucleus. [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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