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
Psoriasis, protection against
Source Database
ClinVar
Description
NM_144701.3(IL23R):c.1142G>A (p.Arg381Gln) AND Psoriasis, protection against
Pubmed
18438406
Pubmed
12023369
Pubmed
17587057
Pubmed
17447842
Pubmed
19122664
Pubmed
17068223
Pubmed
17804789
Pubmed
20228799
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/RCV000003255
ClinVar Disease
Psoriasis, protection against
Observed Origin Sample
germline
Pubmed
17786191
Drugs