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Gene entry

ADA

adenosine deaminase

Chromosome
20
Cytoband
20q13.12
Variants (rsID)
28

ADA is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q13.12). Its official name is “adenosine deaminase”. The reference table lists 28 variants (rsID) for this gene.

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Clinically classified variants

17 reference-table entries with clinical significance.

  • rs11555566Benignsingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs244076Benignsingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs73598374Benignsingle nucleotide variantAdenosine deaminase 2 allozyme|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs121908718Conflicting interpretationssingle nucleotide variantPartial adenosine deaminase deficiency|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs121908728Conflicting interpretationssingle nucleotide variantPartial adenosine deaminase deficiency|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency|Severe combined immunodeficiency disease
  • rs121908740Conflicting interpretationssingle nucleotide variantPartial adenosine deaminase deficiency|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs201944717Conflicting interpretationssingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs199422327Likely pathogenicsingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs267606634Othersingle nucleotide variantSevere Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency|Adenosine Deaminase Deficiency
  • rs267606635Othersingle nucleotide variant
  • rs121908715Pathogenicsingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
  • rs121908716Pathogenicsingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs121908723Pathogenicsingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs121908725Pathogenicsingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs121908739Pathogenicsingle nucleotide variantSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency|Severe combined immunodeficiency disease
  • rs771266745PathogenicDeletionSevere combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
  • rs121908736Uncertain significancesingle nucleotide variantPartial adenosine deaminase deficiency|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

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.