Y69C (p.Tyr69Cys) variant of IL2RG (P31785)
Y69C (p.Tyr69Cys) in IL2RG (P31785) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of X-linked severe combined immunodeficiency. The record also includes published literature and structural context.
Y69C (p.Tyr69Cys) variant details
- p.Tyr69Cys
- rs2519647963
- ClinGen CA413497109
- ClinVar RCV003022542
- Conflicting interpretations
- X-linked severe combined immunodeficiency
- Missense
- ClinVar: Conflicting classifications of pathogenicity (X-linked severe combined immunodeficiency)
- UniProt: Conflicting interpretations
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)