rs104886047
This is a stop gained variant in the COL4A5 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Case reportUnknown
This study identified 12 different mutations in the COL4A5 gene (X-linked) among 17 Finnish Alport syndrome families using PCR amplification and direct sequencing. Mutations included 7 missense variants, 2 deletions, and 3 splicing mutations affecting collagen IV. RT-PCR analysis of splicing mutations 3756-3C>G and 3657-9A>G confirmed they cause exon skipping and intronic insertions, respectively, with variable clinical phenotypes despite shared mutations.
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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