G1815E (p.Gly1815Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1815E (p.Gly1815Glu) 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; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions, population frequency data, and published literature.
G1815E (p.Gly1815Glu) variant details
- p.Gly1815Glu
- rs2531038212
- ClinGen CA352672888
- ClinVar RCV003994687
- ClinVar RCV006455827
- Likely pathogenic
- Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa dystrophica
- Missense
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Recessive dystrophic epidermolysis bullosa; Epidermolysis bullos)
- EBI: Likely pathogenic (in NDNC8)
- UniProt: Likely pathogenic (in NDNC8)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)