rs1279058110
This variant is located in the MTRFR gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationCombined oxidative phosphorylation defect type 7;Spastic paraplegia
View on ClinVar →About MTRFR
This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
View all MTRFR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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