Variant: rs769742294 

    present in Gene: CD46
    present in Chromosome: 1
    Position on Chromosome: 207757204
    Alleles of this Variant: T/G

rs769742294 in CD46 gene and Atypical Hemolytic Uremic Syndrome PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 20513133 2010 Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

PMID 24944786 2014 Atypical haemolytic uraemic syndrome associated with a CD46 mutation triggered by Shigella flexneri.

PMID 26559391 2016 The role of ADAMTS-13 activity and complement mutational analysis in differentiating acute thrombotic microangiopathies.

PMID 23731345 2013 Two patients with history of STEC-HUS, posttransplant recurrence and complement gene mutations.

PMID 26307634 2015 Incomplete penetrance of CD46 mutation causing familial atypical hemolytic uremic syndrome.

PMID 28056875 2017 Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.

PMID 16762990 2006 Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome.

PMID 23431077 2013 Combined complement gene mutations in atypical hemolytic uremic syndrome influence clinical phenotype.

PMID 17089378 2007 The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.

PMID 25899302 2016 A national specialized service in England for atypical haemolytic uraemic syndrome-the first year's experience.