W47* (p.Trp47Ter) variant of COL2A1 (Collagen alpha-1(II) chain)
W47* (p.Trp47Ter) in COL2A1 (Collagen alpha-1(II) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W47* (p.Trp47Ter) variant details
- p.Trp47Ter
- rs121912896
- ClinGen CA127181
- NCI-TCGA Cosmic COSV6153
- ClinVar RCV000018944
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment… (PMID 16752401)