rs531927123

This variant is located in the TIMMDC1 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

Mitochondrial complex I deficiency, nuclear type 31

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About TIMMDC1

Predicted to be involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nucleoplasm. Implicated in nuclear type mitochondrial complex I deficiency 31. [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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