rs104886240
This is a stop gained variant in the COL4A5 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndromeCase reportN=150Mato Nagel et al.(2005)· Human Mutation
This study reports 47 novel mutations in COL4A5 (34 mutations), COL4A3 (9 mutations), and COL4A4 (4 mutations) genes identified during routine molecular diagnostic testing for Alport syndrome. The researchers achieved a 90% detection rate in patients with typical clinical symptoms and characteristic family history in both X-linked and autosomal recessive forms, establishing that most relevant pathogenic mutations can be identified by their sequencing methodology.
About COL4A5
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
View all COL4A5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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