G60D (p.Gly60Asp) variant of COL1A2 (Collagen alpha-2(I) chain)
G60D (p.Gly60Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, cardiac valvular type. The record also includes structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- rs2484693671
- ClinGen CA368219191
- ClinVar RCV003388655
- NCI-TCGA Cosmic COSV5195
- Uncertain significance
- Ehlers-Danlos syndrome, cardiac valvular type
- Missense
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, cardiac valvular type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available