Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Ter546Cysext*? (p.*546Cext*?)
(
ENST00000291582.6 )
AIRE p.Ter546Cysext*? (p.*546Cext*?) ( ENST00000291582.6 ) - Associated Disease
- Polyglandular autoimmune syndrome, type 1
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.1638A>T (p.Ter546Cys) AND Polyglandular autoimmune syndrome, type 1
- ClinVar Allele ID
- 70861
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.1638A>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-09-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000049633
- ClinVar Disease
- Polyglandular autoimmune syndrome, type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- not provided
- Observed Origin Sample
- unknown
Drugs