G1569R (p.Gly1569Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1569R (p.Gly1569Arg) 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 Nonsyndromic congenital nail disorder 8; Transient bullous dermolysis of the new. The record also includes variant effect predictions, population frequency data, and published literature.
G1569R (p.Gly1569Arg) variant details
- p.Gly1569Arg
- rs989893662
- ClinGen CA73979493
- ClinVar RCV003030824
- ClinVar RCV005034583
- Likely pathogenic
- Nonsyndromic congenital nail disorder 8; Transient bullous dermolysis of the new
- Missense
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Nonsyndromic congenital nail disorder 8; Transient bullous dermo)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)