Variant: rs80356553 

    present in Gene: VCAN;VCAN-AS1
    present in Chromosome: 5
    Position on Chromosome: 83542269
    Alleles of this Variant: G/A;T

rs80356553 in VCAN;VCAN-AS1 gene and Hyaloideoretinal degeneration of Wagner PMID 17035272 2007 Clinical characterisation and molecular analysis of Wagner syndrome.

PMID 16636652 2006 Identification of the genetic defect in the original Wagner syndrome family.

PMID 23571384 2013 De novo splice mutation in the versican gene in a family with Wagner syndrome.

PMID 19901218 2009 Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.