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
- Inflammatory bowel disease 17, protection against
- Source Database
- ClinVar
- Description
- NM_144701.3(IL23R):c.1142G>A (p.Arg381Gln) AND Inflammatory bowel disease 17, protection against
- ClinVar Allele ID
- 18147
- ClinVar RefSeq Alternation Syntax
- NM_144701.3:c.1142G>A
- Clinical Significance Description
- protective
- Clinical Significance Last Update
- 2010-04-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003254
- ClinVar Disease
- Inflammatory bowel disease 17, protection against
- Observed Origin Sample
- germline
- Pubmed
- 17786191
- Pubmed
- 18438406
- Pubmed
- 12023369
- Pubmed
- 17587057
- Pubmed
- 17447842
- Pubmed
- 19122664
- Pubmed
- 17068223
- Pubmed
- 17804789
- Pubmed
- 20228799
Drugs