rs104886338
This variant is located in the COL4A5 gene.
▶ClinVar annotation
COL4A5-related disorder; X-linked Alport syndrome (ATS1)
View on ClinVar →▶Research that mentions this SNP (1)
▶A two-tier approach to mutation detection in theCOL4A5 gene for Alport syndromeCase reportN=25Kathy King et al.(2006)· Human Mutation
A two-tier mutation screening approach using RNA-based fluorescent chemical cleavage of mismatch followed by exon-by-exon DNA sequencing identified 21 mutations in the COL4A5 gene in 25 patients with X-linked Alport syndrome, including 4 large deletions, 2 deep intronic mutations, 3 frameshifts, 2 splice site mutations, 1 in-frame deletion, and 8 missense mutations. The study demonstrates that RNA-based screening from hair roots is more effective than DNA-based approaches alone for detecting pathogenic variants, particularly deep intronic 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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