G1338R (p.Gly1338Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1338R (p.Gly1338Arg) 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; Epidermolysis bullosa dystrophica; D. The record also includes variant effect predictions, population frequency data, and published literature.
G1338R (p.Gly1338Arg) variant details
- p.Gly1338Arg
- rs1156352791
- ClinGen CA352696856
- ClinVar RCV001352811
- ClinVar RCV001823199
- Pathogenic/Likely pathogenic
- Recessive dystrophic epidermolysis bullosa; Epidermolysis bullosa dystrophica; D
- Missense
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Recessive dystrophic epidermolysis bullosa; Epidermolysis bullos)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)