C198R (p.Cys198Arg) variant of IL12RB1 (P42701)
C198R (p.Cys198Arg) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic. The record also includes published literature.
C198R (p.Cys198Arg) variant details
- p.Cys198Arg
- rs121434495
- ClinGen CA119249
- ClinVar RCV000008504
- Ensembl rs121434495
- Pathogenic
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- ClinVar: Pathogenic (Mendelian susceptibility to mycobacterial diseases due to comple)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and… (PMID 12594833)
- Cited in: Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles… (PMID 16293671)