G74C (p.Gly74Cys) variant of ADA (Adenosine deaminase)
G74C (p.Gly74Cys) in ADA (Adenosine deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The record also includes published literature and structural context.
G74C (p.Gly74Cys) variant details
- p.Gly74Cys
- rs121908730
- ClinGen CA265999
- ClinVar RCV000059095
- UniProt VAR 002212
- Likely pathogenic
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- ClinVar: Likely pathogenic (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Structural context available
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)
- Cited in: Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to… (PMID 1284479)