Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Ala264LeufsTer114 (p.A264Lfs*114)
(
ENST00000291582.6 )
AIRE p.Ala264LeufsTer114 (p.A264Lfs*114) ( ENST00000291582.6 ) - Associated Disease
- Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.789del (p.Ala264fs) AND Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia
- ClinVar Allele ID
- 18354
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.789del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003479
- ClinVar Disease
- Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia
- Observed Origin Sample
- germline
- Pubmed
- 14557425
Drugs