Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Arg257Ter (p.R257*)
(
ENST00000291582.6 )
AIRE p.Arg257Ter (p.R257*) ( ENST00000291582.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) AND not provided
- ClinVar Allele ID
- 18346
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.769C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-04-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000378770
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs