Variant: rs369488210 

    present in Gene: ATP7B;ALG11
    present in Chromosome: 13
    Position on Chromosome: 52011283
    Alleles of this Variant: T/A

rs369488210 in ATP7B;ALG11 gene and Hepatolenticular Degeneration PMID 15024742 2004 Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.

PMID 19118915 2009 Genotype-phenotype correlation in Italian children with Wilson's disease.

PMID 19371217 2009 RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.

PMID 23982005 2013 Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.

PMID 25497208 2015 Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.

PMID 20967755 2010 Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease.

PMID 22677543 2012 Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.

PMID 23518715 2013 A genetic study of Wilson's disease in the United Kingdom.

PMID 23962630 2014 Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.