Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Ala21Val (p.A21V)
(
ENST00000291582.6 )
AIRE p.Ala21Val (p.A21V) ( ENST00000291582.6 ) - Associated Disease
- Polyglandular autoimmune syndrome, type 1
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.62C>T (p.Ala21Val) AND Polyglandular autoimmune syndrome, type 1
- ClinVar Allele ID
- 79119
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.62C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-23
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000169178
- ClinVar Disease
- Polyglandular autoimmune syndrome, type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs