Variant (rsID / SNP)

rs199917616

rs199917616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FOXP3. Clinical significance in the table: Benign.

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Reference-table entries

FOXP3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Cytoband: Xp11.23
HGVS: NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys)
Allele change: Missense_S59C

Associated conditions / phenotypes

Monogenic diabetes|Insulin-dependent diabetes mellitus secretory diarrhea syndrome

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.