G1329E (p.Gly1329Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1329E (p.Gly1329Glu) 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; Recessive dystrophic epidermolysis bull.
G1329E (p.Gly1329Glu) variant details
- p.Gly1329Glu
- Ensembl rs2045125859
- Likely pathogenic
- Nonsyndromic congenital nail disorder 8; Recessive dystrophic epidermolysis bull
- Missense
- ClinVar: Likely pathogenic (Nonsyndromic congenital nail disorder 8; Recessive dystrophic ep)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic