Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Leu323SerfsTer51 (p.L323Sfs*51)
(
ENST00000291582.6 )
AIRE p.Leu323SerfsTer51 (p.L323Sfs*51) ( ENST00000291582.6 ) - Associated Disease
- AIRE-related disorder
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.967_979del (p.Leu323fs) AND AIRE-related disorder
- ClinVar Allele ID
- 18348
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.967_979del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-06-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003407265
- ClinVar Disease
- AIRE-related disorder
- Observed Origin Sample
- germline
Drugs