Variant (rsID / SNP)

rs121434254

rs121434254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIRE. Location: chromosome 21, position 45,709,656. Clinical significance in the table: Pathogenic.

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Reference-table entries

AIREPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:45709656
Cytoband: 21q22.3
HGVS: NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
Allele change: Nonsense_R257X

Associated conditions / phenotypes

Polyglandular autoimmune syndrome, type 1

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.