rs150903058
This variant is located in the COL7A1 gene.
▶ClinVar annotation
not provided; 7 conditions; COL7A1-related disorder
View on ClinVar →▶Research that mentions this SNP (1)
▶Toenail Dystrophy With COL7A1 Glycine Substitution Mutations Segregates as an Autosomal Dominant Trait in 2 Families With Dystrophic Epidermolysis BullosaReviewKazuko C. Sato-Matsumura et al.(2002)· Archives of Dermatology
A comprehensive review of genotype-phenotype correlations in dystrophic epidermolysis bullosa (DEB), a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The review analyzes clinical manifestations across multiple DEB subtypes (dominant, recessive, localized, inversa, and self-improving forms) and correlates them with specific COL7A1 mutations, demonstrating that premature termination codons and complete absence of type VII collagen at the dermoepidermal junction are associated with severe disease.
About COL7A1
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]
View all COL7A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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