E43G (p.Glu43Gly) variant of FANCC (Fanconi anemia group C protein)
E43G (p.Glu43Gly) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Fanconi anemia. The record also includes structural context.
E43G (p.Glu43Gly) variant details
- p.Glu43Gly
- cosmic curated COSV56661
- Uncertain significance
- Fanconi anemia
- Missense
- ClinVar: Uncertain significance (Fanconi anemia)
- UniProt: Uncertain significance
- Structural context available