Annotation Detail
Information
- Associated Genes
- IL1A
- Associated Variants
-
IL1A p.Ala114Ser (p.A114S)
(
ENST00000263339.4 )
IL1A p.Ala114Ser (p.A114S) ( ENST00000263339.4 ) - Associated Disease
- IL1A-related disorder
- Source Database
- ClinVar
- Description
- NM_000575.5(IL1A):c.340G>T (p.Ala114Ser) AND IL1A-related disorder
- ClinVar Allele ID
- 3200559
- ClinVar RefSeq Alternation Syntax
- NM_000575.5:c.340G>T
- ClinVar RefSeq Alternation Syntax
- NM_001371554.1:c.340G>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003982272
- ClinVar Disease
- IL1A-related disorder
- Observed Origin Sample
- germline
Drugs