Variant: rs104894651 

    present in Gene: USH1G;OTOP2
    present in Chromosome: 17
    Position on Chromosome: 74922931
    Alleles of this Variant: A/G

rs104894651 in USH1G;OTOP2 gene and USHER SYNDROME, TYPE IG PMID 16283141 2005 A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

PMID 12588794 2003 Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

PMID 20142502 2010 The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.

PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.