E62G (p.Glu62Gly) variant of NBN (Nibrin)
E62G (p.Glu62Gly) in NBN (Nibrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
E62G (p.Glu62Gly) variant details
- p.Glu62Gly
- Ensembl rs1812067152
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available