rs35138315
This variant is located in the COL4A4 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
urinary microalbumin measurement
▶ClinVar annotation
not provided; Autosomal recessive Alport syndrome; Benign familial hematuria; Chronic kidney disease; Alport syndrome; COL4A4-related disorder; Inborn genetic diseases; Autosomal recessive Alport syndrome;Hematuria, benign familial, 1; Hematuria
View on ClinVar →About COL4A4
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. 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. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]
View all COL4A4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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