Annotation Detail

Information
Associated Genes
IL10RA
Associated Variants
IL10RA p.Ser420Leu (p.S420L) ( ENST00000227752.8 )
IL10RA p.Ser420Leu (p.S420L) ( ENST00000227752.8 )
Associated Disease
inflammatory bowel disease 28
Source Database
ClinVar
Description
NM_001558.4(IL10RA):c.1259C>T (p.Ser420Leu) AND Inflammatory bowel disease 28
ClinVar Allele ID
318358
ClinVar RefSeq Alternation Syntax
NM_001558.4:c.1259C>T
ClinVar RefSeq Alternation Syntax
NR_026691.2:n.1463C>T
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-31
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000535910
ClinVar Disease
Inflammatory bowel disease 28
Observed Origin Sample
germline
Drugs