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Gene entry

RAG1

recombination activating 1

Chromosome
11
Cytoband
11p12
Variants (rsID)
29

RAG1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11p12). Its official name is “recombination activating 1”. The reference table lists 29 variants (rsID) for this gene.

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Clinically classified variants

19 reference-table entries with clinical significance.

  • rs1801203Benignsingle nucleotide variantRECOMBINATION ACTIVATING GENE 1 POLYMORPHISM
  • rs4151025Benignsingle nucleotide variantHistiocytic medullary reticulosis|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
  • rs4151033Benignsingle nucleotide variantCombined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Histiocytic medullary reticulosis
  • rs193922462Conflicting interpretationssingle nucleotide variantSevere combined immunodeficiency disease|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
  • rs193922463Conflicting interpretationssingle nucleotide variantHistiocytic medullary reticulosis|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
  • rs4151031Conflicting interpretationssingle nucleotide variantCombined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Histiocytic medullary reticulosis
  • rs104894298Likely pathogenicsingle nucleotide variantCombined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
  • rs121918570Likely pathogenicsingle nucleotide variantCombined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas
  • rs104894282Pathogenicsingle nucleotide variantSevere combined immunodeficiency, B cell-negative
  • rs104894284Pathogenicsingle nucleotide variantHistiocytic medullary reticulosis|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas|Combined immunodeficiency with skin granulomas
  • rs104894285Pathogenicsingle nucleotide variantSevere combined immunodeficiency, B cell-negative|Histiocytic medullary reticulosis|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas
  • rs104894286Pathogenicsingle nucleotide variantHistiocytic medullary reticulosis|Inherited Immunodeficiency Diseases|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas
  • rs104894287Pathogenicsingle nucleotide variantCombined immunodeficiency due to partial RAG1 deficiency|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas
  • rs121918569Pathogenicsingle nucleotide variantCombined immunodeficiency with skin granulomas
  • rs121918571Pathogenicsingle nucleotide variantHistiocytic medullary reticulosis|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas
  • rs141524540Pathogenicsingle nucleotide variantCombined immunodeficiency with skin granulomas|Combined immunodeficiency due to partial RAG1 deficiency|Histiocytic medullary reticulosis|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Severe combined immunodeficiency disease
  • rs193922461Pathogenicsingle nucleotide variantCombined immunodeficiency with skin granulomas|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
  • rs193922464Pathogenicsingle nucleotide variantSevere combined immunodeficiency disease|RAG1-Related Disorders|Combined immunodeficiency with skin granulomas|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive|Combined immunodeficiency due to partial RAG1 deficiency
  • rs28933392Pathogenicsingle nucleotide variantSevere combined immunodeficiency, B cell-negative

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.