Q102* (p.Gln102Ter) variant of IL12RB1 (P42701)
Q102* (p.Gln102Ter) in IL12RB1 (P42701) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic.
Q102* (p.Gln102Ter) variant details
- p.Gln102Ter
- rs2035855899
- ClinGen CA404789879
- ClinVar RCV003022741
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic