Annotation Detail
Information
- Associated Genes
- IL23R
- Associated Variants
-
IL23R p.Leu310Pro (p.L310P)
(
ENST00000697154.1,
ENST00000371007.6,
ENST00000347310.10,
ENST00000425614.3,
ENST00000697165.1,
ENST00000697164.1,
ENST00000697230.1,
ENST00000697163.1 )
IL23R p.Leu310Pro (p.L310P) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_144701.3(IL23R):c.929T>C (p.Leu310Pro) AND not specified
- ClinVar Allele ID
- 1153677
- ClinVar RefSeq Alternation Syntax
- NM_144701.3:c.929T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003487399
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs