Variant: rs1060499654 

    present in Gene: COL4A3;MFF-DT
    present in Chromosome: 2
    Position on Chromosome: 227280587
    Alleles of this Variant: C/T

rs1060499654 in COL4A3;MFF-DT 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.

PMID 22887978 2012 Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.