T162R (p.Thr162Arg) variant of C3 (Complement C3)
T162R (p.Thr162Arg) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Atypical hemolytic-uremic syndrome; not provided. The record also includes published literature and structural context.
T162R (p.Thr162Arg) variant details
- p.Thr162Arg
- rs2512270762
- ClinGen CA403644901
- ClinVar RCV003064537
- ClinVar RCV005863794
- Conflicting interpretations
- Atypical hemolytic-uremic syndrome; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Atypical hemolytic-uremic syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. (PMID 19821824)
- Cited in: Atypical hemolytic-uremic syndrome. (PMID 19846853)