rs1032126923

This variant is located in the C2orf69 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Inborn genetic diseases

About C2orf69

Involved in oxidative phosphorylation. Located in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 53. [provided by Alliance of Genome Resources, Jul 2025]

View all C2orf69 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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