Variant (rsID / SNP)
rs179363878
rs179363878 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AIRE. Location: chromosome 21, position 45,705,972. 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
- 21:45705972
- Cytoband
- 21q22.3
- HGVS
- NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)
- Allele change
- Missense_L28P
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.