rs121434452

This is a variant in the TUFM gene that changes a arginine to an glutamine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters6 publications

Combined oxidative phosphorylation defect type 4

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About TUFM

This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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