{{Rsnum
|rsid=76151636
|Gene=ATP7B
|Chromosome=13
|position=51944145
|Orientation=plus
|GMAF=0.001377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=ATP7B
}}{{omim
|id=606882
|rsnum=76151636
|variant=0002
}}
{{omim
|id=606882
|rsnum=76151636
|variant=0006
}}{{ClinVar
|rsid=76151636
|Reversed=0
|FwdREF=G
|FwdALT=T
|REF=G
|ALT=T
|RSPOS=52518281
|CHROM=13
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050268000000000416110100
|GENEINFO=ATP7B:540
|GENE_NAME=ATP7B
|GENE_ID=540
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000013.10:g.52518281G>T
|CLNSRC=Emory University; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=4735; NBK1512; 606882.0002; 606882.0006
|CLNSIG=5
|CLNCUI=C0019202
|CLNDBN=Wilson's disease; not provided
|Disease=Wilson's disease; not provided
|CLNACC=RCV000004052.2; RCV000078049.1
|Tags=PM;PMC;S3D;HD;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9986; 0.001377
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1512:C0019202:277900:905:88518009
|COMMON=1
}}{{PMID|7626145}} The Wilson disease gene: spectrum of mutations and their consequences.

{{PMID|10544227|OA=1
}} Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.

{{PMID|17717039|OA=1
}} Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.