rs200024253

This is a variant in the MYO19 gene that changes a methionine to an valine.

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ClinVar annotation

Pathogenic★☆☆☆

2 submitters2 publications

Hyperphosphatasia with intellectual disability syndrome 5 (GPIBD11); not specified

About MYO19

Enables ATP hydrolysis activity and actin binding activity. Involved in regulation of cytokinesis and regulation of mitochondrial fission. Acts upstream of or within mitochondrion migration along actin filament. Located in cytosol and mitochondrial outer membrane. [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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