G1703E (p.Gly1703Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1703E (p.Gly1703Glu) 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 not provided; Recessive dystrophic epidermolysis bullosa; Nonsyndromic congenita. The record also includes variant effect predictions, population frequency data, and published literature.
G1703E (p.Gly1703Glu) variant details
- p.Gly1703Glu
- rs770304825
- ClinGen CA2379668
- ClinVar RCV001898982
- ClinVar RCV004587247
- Pathogenic
- not provided; Recessive dystrophic epidermolysis bullosa; Nonsyndromic congenita
- Missense
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Recessive dystrophic epidermolysis bullosa; Nonsyn)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Population evidence available
- 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)