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Variant (rsID / SNP)

rs72650677

AIRE

rs72650677 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIRE. Location: chromosome 21, position 45,713,715. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

AIREConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:45713715
Cytoband
21q22.3
HGVS
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met)
Allele change
Missense_T441M

Associated conditions / phenotypes

Polyglandular autoimmune syndrome, type 1

Public references

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