G2366A (p.Gly2366Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
G2366A (p.Gly2366Ala) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Recessive dystrophic epidermolysis bullosa; not provided; Nonsyndromic congenita. The record also includes variant effect predictions, population frequency data, and published literature.
G2366A (p.Gly2366Ala) variant details
- p.Gly2366Ala
- rs2043899331
- ClinGen CA352651445
- ClinVar RCV003555063
- ClinVar RCV004701730
- Pathogenic/Likely pathogenic
- Recessive dystrophic epidermolysis bullosa; not provided; Nonsyndromic congenita
- Missense
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Recessive dystrophic epidermolysis bullosa; not provided; Nonsyn)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)