Variant (rsID / SNP)
rs193922418
rs193922418 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIRE. Location: chromosome 21, position 45,707,016. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
AIREPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:45707016
- Cytoband
- 21q22.3
- HGVS
- NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)
- Allele change
- Missense_G155S
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.