Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

TMEM126A

transmembrane protein 126A

Chromosome
11
Cytoband
11q14.1
Variants (rsID)
6

TMEM126A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q14.1). Its official name is “transmembrane protein 126A”. The reference table lists 6 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

5 reference-table entries with clinical significance.

  • rs11556797Benignsingle nucleotide variantAutosomal recessive optic atrophy, OPA7 type
  • rs115906592Benignsingle nucleotide variantAutosomal recessive optic atrophy, OPA7 type
  • rs140047528Benignsingle nucleotide variantAutosomal recessive optic atrophy, OPA7 type
  • rs34397695Benignsingle nucleotide variantAutosomal recessive optic atrophy, OPA7 type
  • rs36100288Conflicting interpretationssingle nucleotide variantAutosomal recessive optic atrophy, OPA7 type

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.