G1347W (p.Gly1347Trp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1347W (p.Gly1347Trp) 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 Epidermolysis bullosa dystrophica; Recessive dystrophic epidermolysis bullosa; n. The record also includes variant effect predictions, population frequency data, and published literature.
G1347W (p.Gly1347Trp) variant details
- p.Gly1347Trp
- rs121912833
- ClinGen CA2380261
- ClinVar RCV001206925
- ClinVar RCV002225127
- Pathogenic/Likely pathogenic
- Epidermolysis bullosa dystrophica; Recessive dystrophic epidermolysis bullosa; n
- Missense
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Epidermolysis bullosa dystrophica; Recessive dystrophic epidermo)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the South Asian population (allele frequency 9.3e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)