Variant (rsID / SNP)

rs142788946

rs142788946 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIRE. Location: chromosome 21, position 45,706,895. Clinical significance in the table: Uncertain significance.

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Reference-table entries

AIREUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:45706895
Cytoband: 21q22.3
HGVS: NM_000383.4(AIRE):c.342G>T (p.Lys114Asn)
Allele change: Missense_K114N

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.