Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Arg257Ter (p.R257*)
(
ENST00000291582.6 )
AIRE p.Arg257Ter (p.R257*) ( ENST00000291582.6 ) - Associated Disease
- Polyglandular autoimmune syndrome, type 1
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) AND Polyglandular autoimmune syndrome, type 1
- ClinVar Allele ID
- 18346
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.769C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000179294
- ClinVar Disease
- Polyglandular autoimmune syndrome, type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Observed Origin Sample
- maternal
- Pubmed
- 9398839
- Pubmed
- 9921903
- Pubmed
- 12050215
- Pubmed
- 6031738
- Pubmed
- 9398840
- Pubmed
- 19807739
- Pubmed
- 16965330
- Pubmed
- 17539912
Drugs