R1814C (p.Arg1814Cys) variant of COL7A1 (Collagen alpha-1(VII) chain)
R1814C (p.Arg1814Cys) 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 not provided; Epidermolysis bullosa dystrophica. The record also includes variant effect predictions, population frequency data, and published literature.
R1814C (p.Arg1814Cys) variant details
- p.Arg1814Cys
- rs778035441
- ClinGen CA2379494
- NCI-TCGA Cosmic COSV6040
- ClinVar RCV001352698
- Pathogenic/Likely pathogenic
- not provided; Epidermolysis bullosa dystrophica
- Missense
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Epidermolysis bullosa dystrophica)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)