Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Cys311Tyr (p.C311Y)
(
ENST00000291582.6 )
AIRE p.Cys311Tyr (p.C311Y) ( ENST00000291582.6 ) - Associated Disease
- Polyglandular autoimmune syndrome, type 1
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.932G>A (p.Cys311Tyr) AND Polyglandular autoimmune syndrome, type 1
- ClinVar Allele ID
- 70862
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.932G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000049634
- ClinVar Disease
- Polyglandular autoimmune syndrome, type 1
- Observed Origin Sample
- not provided
Drugs