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Gene entry

ABCA12

ATP binding cassette subfamily A member 12

Chromosome
2
Cytoband
2q35
Variants (rsID)
49

ABCA12 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q35). Its official name is “ATP binding cassette subfamily A member 12”. The reference table lists 49 variants (rsID) for this gene.

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Clinically classified variants

9 reference-table entries with clinical significance.

  • rs114651183Benignsingle nucleotide variantCongenital ichthyosis of skin
  • rs11890512Benignsingle nucleotide variantCongenital ichthyosis of skin
  • rs149610963Benignsingle nucleotide variantCongenital ichthyosis of skin
  • rs16853238Benignsingle nucleotide variantCongenital ichthyosis of skin
  • rs726070Benignsingle nucleotide variantAutosomal recessive congenital ichthyosis 4B|Congenital ichthyosis of skin
  • rs137853289Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 4B|Autosomal recessive congenital ichthyosis 4A
  • rs28940269Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 4A|Autosomal recessive congenital ichthyosis 4B|Autosomal recessive congenital ichthyosis 4A
  • rs28940568Pathogenicsingle nucleotide variantAutosomal recessive congenital ichthyosis 4A
  • rs387906284PathogenicDeletionAutosomal recessive congenital ichthyosis 4B

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.