Annotation Detail
Information
- Associated Genes
- IL1B
- Associated Variants
-
IL1B p.Phe105= (p.F105=)
(
ENST00000263341.7 )
IL1B p.Phe105= (p.F105=) ( ENST00000263341.7 ) - Associated Disease
- antisynthetase syndrome
- Source Database
- ClinVar
- Description
- NM_000576.3(IL1B):c.315C>T (p.Phe105=) AND Antisynthetase syndrome
- ClinVar Allele ID
- 857373
- ClinVar RefSeq Alternation Syntax
- NM_000576.3:c.315C>T
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 2020-02-10
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001078161
- ClinVar Disease
- Antisynthetase syndrome
- Observed Origin Sample
- germline
Drugs