rs2094584404
This variant is located in the RRM1 gene.
▶ClinVar annotation
Likely Pathogenic★★★☆
3 submitters2 publicationsRRM1-related disorder; Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6
View on ClinVar →About RRM1
This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
View all RRM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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