Annotation Detail

Information
Associated Genes
IL10RB IFNAR2-IL10RB
Associated Variants
IFNAR2-IL10RB p.Lys267Glu (p.K267E), IL10RB p.Lys47Glu (p.K47E) ( ENST00000290200.7, ENST00000609556.3, ENST00000637650.2, ENST00000433395.7 )
IFNAR2-IL10RB p.Lys267Glu (p.K267E), IL10RB p.Lys47Glu (p.K47E) ( ENST00000290200.7, ENST00000609556.3, ENST00000637650.2, ENST00000433395.7 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000628.5(IL10RB):c.139A>G (p.Lys47Glu) AND not specified
ClinVar Allele ID
31962
ClinVar RefSeq Alternation Syntax
NM_000628.5:c.139A>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2023-11-12
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000455211
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs