R2063G (p.Arg2063Gly) variant of COL7A1 (Collagen alpha-1(VII) chain)
R2063G (p.Arg2063Gly) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Transient bullous dermolysis of the newborn. The record also includes variant effect predictions, population frequency data, and published literature.
R2063G (p.Arg2063Gly) variant details
- p.Arg2063Gly
- rs121912849
- ClinGen CA352662690
- ClinVar RCV002249009
- ExAC rs121912849
- Likely pathogenic
- Transient bullous dermolysis of the newborn
- Missense
- CADD 29.50
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Likely pathogenic (Transient bullous dermolysis of the newborn)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)