G2737R (p.Gly2737Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2737R (p.Gly2737Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermolysis bullosa dystrophica; Transient bullous dermolysis of the newborn. The record also includes variant effect predictions and published literature.
G2737R (p.Gly2737Arg) variant details
- p.Gly2737Arg
- rs2043632416
- ClinGen CA352639439
- ClinVar RCV001352716
- Ensembl rs2043632416
- Pathogenic
- Epidermolysis bullosa dystrophica; Transient bullous dermolysis of the newborn
- Missense
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic (Epidermolysis bullosa dystrophica; Transient bullous dermolysis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)