G1489D (p.Gly1489Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1489D (p.Gly1489Asp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Recessive dystrophic epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
G1489D (p.Gly1489Asp) variant details
- p.Gly1489Asp
- rs1416352336
- ClinGen CA352691145
- ClinVar RCV003990517
- gnomAD rs1416352336
- Likely pathogenic
- Recessive dystrophic epidermolysis bullosa
- Missense
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Recessive dystrophic epidermolysis bullosa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)