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Variant (rsID / SNP)

rs231775

CTLA4

rs231775 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTLA4. Location: chromosome 2, position 204,732,714. Clinical significance in the table: Benign.

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Reference-table entries

CTLA4Benign
Clinical significance (as recorded)
Benign
Variant type
single nucleotide variant
Chromosome / position
2:204732714
Cytoband
2q33.2
HGVS
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala)
Allele change
Missense_T17A

Associated conditions / phenotypes

Hashimoto 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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.