Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Arg139Gly (p.R139G)
(
ENST00000291582.6 )
AIRE p.Arg139Gly (p.R139G) ( ENST00000291582.6 ) - Associated Disease
- Polyglandular autoimmune syndrome, type 1
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.415C>G (p.Arg139Gly) AND Polyglandular autoimmune syndrome, type 1
- ClinVar Allele ID
- 2128951
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.415C>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-11-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002933996
- ClinVar Disease
- Polyglandular autoimmune syndrome, type 1
- Observed Origin Sample
- germline
Drugs