Annotation Detail
Information
- Associated Genes
- AIRE
- Associated Variants
-
AIRE p.Lys114Asn (p.K114N)
(
ENST00000291582.6 )
AIRE p.Lys114Asn (p.K114N) ( ENST00000291582.6 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) AND not specified
- ClinVar Allele ID
- 44328
- ClinVar RefSeq Alternation Syntax
- NM_000383.4:c.342G>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-11-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001797591
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs