Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

GFM1

G elongation factor mitochondrial 1

Chromosome
3
Cytoband
3q25.32
Variants (rsID)
22

GFM1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3q25.32). Its official name is “G elongation factor mitochondrial 1”. The reference table lists 22 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

16 reference-table entries with clinical significance.

  • rs142919829Benignsingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs145970222Benignsingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs35942089Benignsingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs3806642Benignsingle nucleotide variant
  • rs75450876Benignsingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs77186707Benignsingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs149049400Conflicting interpretationssingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs191462023Conflicting interpretationssingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs201304690Conflicting interpretationssingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs373952002Conflicting interpretationssingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs375168014Conflicting interpretationssingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs377352238Conflicting interpretationssingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs119470018Likely pathogenicsingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • rs369399450Likely pathogenicsingle nucleotide variant
  • rs139430866Pathogenicsingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1|Combined oxidative phosphorylation deficiency
  • rs201408725Pathogenicsingle nucleotide variantHepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.