Variant: rs121912860 

    present in Gene: COL4A4
    present in Chromosome: 2
    Position on Chromosome: 227055971
    Alleles of this Variant: C/T

rs121912860 in COL4A4 gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 26809805 2016 Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.

PMID 14582039 2003 Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.

rs121912860 in COL4A4 gene and Hematuria, Benign Familial PMID 8787673 1996 Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.

PMID 11961012 2002 Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

PMID 12631110 2003 Mutations in the COL4A4 gene in thin basement membrane disease.