S70I (p.Ser70Ile) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S70I (p.Ser70Ile) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.
S70I (p.Ser70Ile) variant details
- p.Ser70Ile
- TOPMed rs2086711409
- Missense
S70I (p.Ser70Ile) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change.