rs776826330

This variant is located in the MSTO1 gene.

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ClinVar annotation

Conflicting Classifications

4 submitters3 publications

not provided; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome; Inborn mitochondrial myopathy

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]

View all MSTO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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