S47G (p.Ser47Gly) variant of COL6A1 (Collagen alpha-1(VI) chain)
S47G (p.Ser47Gly) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The record also includes structural context.
S47G (p.Ser47Gly) variant details
- p.Ser47Gly
- 1000Genomes rs2123460203
- Missense
- Structural context available