Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

ABCD4

ATP binding cassette subfamily D member 4

Chromosome
14
Cytoband
14q24.3
Variants (rsID)
12

ABCD4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q24.3). Its official name is “ATP binding cassette subfamily D member 4”. The reference table lists 12 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

8 reference-table entries with clinical significance.

  • rs143288344Benignsingle nucleotide variantMethylmalonic acidemia with homocystinuria, type cblJ
  • rs3742801Benignsingle nucleotide variantMethylmalonic acidemia with homocystinuria, type cblJ
  • rs141868117Conflicting interpretationssingle nucleotide variantMethylmalonic acidemia with homocystinuria, type cblJ
  • rs147446660Conflicting interpretationssingle nucleotide variantMethylmalonic acidemia with homocystinuria, type cblJ
  • rs201777056Conflicting interpretationssingle nucleotide variantMethylmalonic acidemia with homocystinuria, type cblJ|Cobalamin C disease
  • rs45568335Conflicting interpretationssingle nucleotide variantMethylmalonic acidemia with homocystinuria, type cblJ
  • rs145141432Uncertain significancesingle nucleotide variantMethylmalonic acidemia with homocystinuria, type cblJ
  • rs183607306Uncertain significancesingle nucleotide variantMethylmalonic acidemia with homocystinuria, type cblJ

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.