G1604R (p.Gly1604Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
G1604R (p.Gly1604Arg) 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 Epidermolysis bullosa dystrophica; Recessive dystrophic epidermolysis bullosa. The record also includes variant effect predictions, population frequency data, and published literature.
G1604R (p.Gly1604Arg) variant details
- p.Gly1604Arg
- rs1560234201
- ClinGen CA352684020
- ClinVar RCV003727821
- UniProt VAR 011163
- Likely pathogenic
- Epidermolysis bullosa dystrophica; Recessive dystrophic epidermolysis bullosa
- Missense
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Epidermolysis bullosa dystrophica; Recessive dystrophic epidermo)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test… (PMID 10504458)
- Cited in: Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. (PMID 10084325)