rs762798018

This is a variant in the MSTO1 gene that changes a valine to an methionine.

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ClinVar annotation

Pathogenic★☆☆☆

4 submitters3 publications

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

About MSTO1

Involved in mitochondrion distribution; mitochondrion organization; and positive regulation of mitochondrial fusion. Located in mitochondrial outer membrane. Is active in cytosol. [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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