Gene: ATP7B ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Molecular defects in ATP7B were present in only 75.0% of Korean WND patients, with the most common mutation, p.Arg778Leu, having an allele frequency of 39.2%. 17587212

2007
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR The H1069Q, R778W and R778L mutations were absent in these WD patients. 17160357

2007
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. 17919502

2007
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. 17949296

2007
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Compound overload of copper and iron in patients with Wilson's disease. 16998622

2006
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease. 15967699

2006
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Twelve different mutations in 33 Korean families with Wilson disease were identified: Arg778Leu (R778L), Asn1270Ser (N1270S), Ala874Val (A874V), 2303-2305delC, 2630-2656del, 2460-2462insC, Cys656Stop (C656X), Pro768His (P768H), Leu1083Phe (L1083F), Ala1168Ser (A1168S), Leu1255Ile (L1255I), and Asp1267Ala (D1267A). 12544487

2003
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B. 12325021

2002
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR The H1069Q point mutation is frequent in Hungarian patients with WD and appears to have originated from a single founder in Eastern Europe. 11857545

2002
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation. 11405812

2001
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation. 11405812

2001
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease. 11479773

2001
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Molecular diagnosis of Wilson disease. 11243728

2001
dbSNP: rs76151636
rs76151636
ATP7B
T 0.900 CausalMutation CLINVAR Thirty-two (39%) Wilson disease patients were homozygous and 39 (48%) heterozygous for the H1069Q mutation (allele frequency 63%). 11690702

2001
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Novel mutations of the ATP7B gene in Japanese patients with Wilson disease. 10721669

2000
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum. 10942420

2000
dbSNP: rs28942074
rs28942074
ATP7B
T 0.900 CausalMutation CLINVAR Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs76151636
rs76151636
ATP7B
0.900 GeneticVariation UNIPROT Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association. 11043508

2000
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online. 10447265

1999
dbSNP: rs28942074
rs28942074
ATP7B
0.900 GeneticVariation UNIPROT Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. 10502776

1999
dbSNP: rs28942074
rs28942074
ATP7B
A 0.900 CausalMutation CLINVAR Molecular analysis and diagnosis in Japanese patients with Wilson's disease. 10453196

1999