Annotation Detail
Information
- Associated Genes
- IL13
- Associated Variants
-
IL13 p.Gln144Arg (p.Q144R)
(
ENST00000304506.7 )
IL13 p.Gln144Arg (p.Q144R) ( ENST00000304506.7 ) - Associated Disease
- IL13-related disorder
- Source Database
- ClinVar
- Description
- NM_002188.3(IL13):c.431A>G (p.Gln144Arg) AND IL13-related disorder
- ClinVar Allele ID
- 29712
- ClinVar RefSeq Alternation Syntax
- NM_002188.3:c.431A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354993.2:c.236A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354992.2:c.236A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354991.2:c.236A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-16
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003974831
- ClinVar Disease
- IL13-related disorder
- Observed Origin Sample
- germline
Drugs