G1014R (p.Gly1014Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G1014R (p.Gly1014Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multipl. The record also includes structural context.
G1014R (p.Gly1014Arg) variant details
- p.Gly1014Arg
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10047
- Pathogenic
- Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Multipl
- Missense
- ClinVar: Pathogenic (Achondrogenesis type II; Avascular necrosis of femoral head, pri)
- UniProt: Pathogenic
- Structural context available