G1400S (p.Gly1400Ser) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1400S (p.Gly1400Ser) 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 Recessive dystrophic epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
G1400S (p.Gly1400Ser) variant details
- p.Gly1400Ser
- rs2107731142
- ClinGen CA352694783
- ClinVar RCV001730025
- Ensembl rs2107731142
- Pathogenic
- Recessive dystrophic epidermolysis bullosa
- Missense
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Recessive dystrophic epidermolysis bullosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)