rs1011840079
This variant is located in the TUFM gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout 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]
View all TUFM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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