Variant: rs1021025464

present in Gene: ALG11;ATP7B present in Chromosome: 13 Position on Chromosome: 52012013 Alleles of this Variant: T/C

rs1021025464 in ALG11;ATP7B gene and Hepatolenticular Degeneration PMID 24878384 2014 New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.

PMID 30087448 2018 An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.

PMID 24094725 2014 Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.