Variant: rs121912827

present in Gene: MFF-DT;COL4A3 present in Chromosome: 2 Position on Chromosome: 227289222 Alleles of this Variant: G/A;T

rs121912827 in MFF-DT;COL4A3 gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 25307543 2015 Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.

rs121912827 in MFF-DT;COL4A3 gene and Hematuria, Benign Familial PMID 11961012 2002 Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.