Variant: rs121912858 

    present in Gene: COL4A4
    present in Chromosome: 2
    Position on Chromosome: 227032253
    Alleles of this Variant: C/T

rs121912858 in COL4A4 gene and ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE PMID 9792860 1998 Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

PMID 7987396 1994 Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome.

PMID 22166944 2012 Clinical utility gene card for: Alport syndrome.