Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE c.463+2T>C
(
ENST00000291582.6 )
AIRE c.463+2T>C ( ENST00000291582.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.463+2T>C AND not provided
- ClinVar Allele ID
- 187065
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.463+2T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000413548
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs