Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Ala264LeufsTer114 (p.A264Lfs*114)
(
ENST00000291582.6 )
AIRE p.Ala264LeufsTer114 (p.A264Lfs*114) ( ENST00000291582.6 ) - Associated Disease
- Polyglandular autoimmune syndrome, type 1
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.789del (p.Ala264fs) AND Polyglandular autoimmune syndrome, type 1
- ClinVar Allele ID
- 18354
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.789del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-09-14
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001047339
- ClinVar Disease
- Polyglandular autoimmune syndrome, type 1
- Observed Origin Sample
- germline
Drugs