G447S (p.Gly447Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G447S (p.Gly447Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Spondyloepiphyseal dysplasia, Stanescu type; not provided. The record also includes published literature and structural context.
G447S (p.Gly447Ser) variant details
- p.Gly447Ser
- rs2540151542
- ClinGen CA384553791
- ClinVar RCV003151697
- UniProt VAR 001744
- Uncertain significance
- Spondyloepiphyseal dysplasia, Stanescu type; not provided
- Missense
- ClinVar: Uncertain significance (Spondyloepiphyseal dysplasia congenita)
- EBI: Pathogenic (in SEDC)
- UniProt: Pathogenic (in SEDC)
- Structural context available
- Cited in: A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family… (PMID 8019561)
- Cited in: Type II Collagen Disorders Overview. (PMID 31021589)