rs2540942790
This variant is located in the TSFM gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationAbout TSFM
This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
View all TSFM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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