Annotation Detail
Information
- Associated Genes
- IL23R
- Associated Variants
-
IL23R p.Arg381Gln (p.R381Q)
(
ENST00000697230.1,
ENST00000697164.1,
ENST00000697163.1,
ENST00000697154.1,
ENST00000425614.3,
ENST00000347310.10,
ENST00000697165.1 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_144701.3(IL23R):c.1142G>A (p.Arg381Gln) AND not provided
- ClinVar Allele ID
- 18147
- ClinVar RefSeq Alternation Syntax
- NM_144701.3:c.1142G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001516563
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs