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Gene entry

AIFM1

apoptosis inducing factor mitochondria associated 1

Chromosome
X
Cytoband
Xq26.1
Variants (rsID)
10

AIFM1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq26.1). Its official name is “apoptosis inducing factor mitochondria associated 1”. The reference table lists 10 variants (rsID) for this gene.

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Clinically classified variants

5 reference-table entries with clinical significance.

  • rs1139851Benignsingle nucleotide variantSevere X-linked mitochondrial encephalomyopathy|Deafness, X-linked 5|Charcot-Marie-Tooth disease|Combined oxidative phosphorylation deficiency|Charcot-Marie-Tooth Neuropathy X|Spondyloepimetaphyseal dysplasia, Bieganski type
  • rs184474885Conflicting interpretationssingle nucleotide variantDeafness, X-linked 5|Charcot-Marie-Tooth Neuropathy X|Combined oxidative phosphorylation deficiency
  • rs752742151Conflicting interpretationssingle nucleotide variantSevere X-linked mitochondrial encephalomyopathy|Combined oxidative phosphorylation deficiency|Charcot-Marie-Tooth Neuropathy X
  • rs781350745Conflicting interpretationssingle nucleotide variantSevere X-linked mitochondrial encephalomyopathy|Charcot-Marie-Tooth Neuropathy X|Combined oxidative phosphorylation deficiency|Charcot-Marie-Tooth disease
  • rs387906500PathogenicDeletionSevere X-linked mitochondrial encephalomyopathy

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.