rs75129043

This variant is located in the OMA1 gene.

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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not provided; Clear cell carcinoma of kidney; Colon adenocarcinoma; Uterine carcinosarcoma; Hepatocellular carcinoma; Malignant tumor of esophagus; Cervical cancer; Familial cancer of breast; Malignant lymphoma, large B-cell, diffuse; Gastric cancer

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About OMA1

Enables metalloendopeptidase activity. Involved in several processes, including HRI-mediated signaling; proteolysis; and regulation of mitochondrion organization. Located in mitochondrial inner membrane. Is active in mitochondrial intermembrane space. [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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