G21V (p.Gly21Val) variant of NBN (Nibrin)
G21V (p.Gly21Val) in NBN (Nibrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Microcephaly, normal inte. The record also includes structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- Ensembl rs2129925919
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Microcephaly, normal inte
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Microceph)
- UniProt: Uncertain significance
- Structural context available