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Gene entry

CTLA4

cytotoxic T-lymphocyte associated protein 4

Chromosome
2
Cytoband
2q33.2
Variants (rsID)
6

CTLA4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q33.2). Its official name is “cytotoxic T-lymphocyte associated protein 4”. The reference table lists 6 variants (rsID) for this gene.

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Clinically classified variants

2 reference-table entries with clinical significance.

  • rs231775Benignsingle nucleotide variantHashimoto thyroiditis, susceptibility to|Systemic lupus erythematosus, susceptibility to|Celiac disease, susceptibility to, 3|Thyroid-associated orbitopathy, susceptibility to|TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO|Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
  • rs3087243Benignsingle nucleotide variantHashimoto thyroiditis, susceptibility to|Celiac disease, susceptibility to, 3|chronic fatigue syndrome with infection-triggered onset|Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

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.