G150R (p.Gly150Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G150R (p.Gly150Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Epidermolysis bullosa dystrophica; COL7A1-related disorder. The record also includes variant effect predictions, population frequency data, and published literature.
G150R (p.Gly150Arg) variant details
- p.Gly150Arg
- rs757715378
- ClinGen CA2381538
- ClinVar RCV002004814
- ClinVar RCV003395313
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa dystrophica; COL7A1-related disorder
- Missense
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa dystrophica; COL7A1-related)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)