G2740A (p.Gly2740Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2740A (p.Gly2740Ala) 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; Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
G2740A (p.Gly2740Ala) variant details
- p.Gly2740Ala
- rs745691610
- ClinGen CA352639340
- ClinVar RCV001896551
- ClinVar RCV002276924
- Pathogenic/Likely pathogenic
- not provided; Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa
- Missense
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Recessive dystrophic epidermolysis bullosa; Epider)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Cited in: Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test… (PMID 10504458)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)