M1L (p.Met1Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
M1L (p.Met1Leu) 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 Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2484686559
- ClinGen CA368218765
- ClinVar RCV003789508
- Uncertain significance
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- Missense
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)