|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
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 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
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 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
|
9837819 |
1998 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
[Mutation analysis of 35 Wilson's disease pedigrees].
|
26829729 |
2016 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
|
25982861 |
2015 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation.
|
11405812 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
|
9482578 |
1998 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
The result shows that Arg778Leu homozygotes are associated with the early onset of WD with hepatic presentation.
|
11405812 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Efficient detection of mutations in Wilson disease by manifold sequencing.
|
8938442 |
1996 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease.
|
11479773 |
2001 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
A genetic study of Wilson's disease in the United Kingdom.
|
23518715 |
2013 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.
|
11043508 |
2000 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
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 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
|
9837819 |
1998 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
|
24094725 |
2014 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The arche haplotype of the ATP7B gene in Korean patients with WD may be 5-R778L-4 (D13S315.mutation.D13S316), and it might illustrate a founder effect.
|
19783880 |
2009 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
|
21219664 |
2011 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. Mutation in brief no. 250. Online.
|
10447265 |
1999 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect.
|
10502776 |
1999 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
New novel mutation of the ATP7B gene in a family with Wilson disease.
|
22075048 |
2012 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Compound overload of copper and iron in patients with Wilson's disease.
|
16998622 |
2006 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
|
8782057 |
1996 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
|
21796144 |
2011 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.
|
12325021 |
2002 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |