Variant (rsID / SNP)

rs3087243

rs3087243 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CTLA4. Location: chromosome 2, position 204,738,919. 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: 2:204738919
Cytoband: 2q33.2
HGVS: NM_005214.5(CTLA4):c.*1148+236G>A

Associated conditions / phenotypes

Hashimoto thyroiditis, susceptibility to|Celiac disease, susceptibility to, 3|chronic fatigue syndrome with infection-triggered onset|Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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