|
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 |
Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
|
26032686 |
2015 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
[Mutation analysis of 35 Wilson's disease pedigrees].
|
26829729 |
2016 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
She was diagnosed with WD based on the presence of Kayser-Fleischer rings around the irises of her eyes and two ATP7B gene mutations, R778L at exon 8 and A874V at exdyon 11.
|
25988284 |
2016 |
|
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
|
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
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
|
10721669 |
2000 |
|
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 |
WND variant protein Arg778Leu, which has defective function in yeast, was extensively mislocalized, presumably to the endoplasmic reticulum.
|
10942420 |
2000 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of Wilson disease.
|
11243728 |
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
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
|
20931554 |
2010 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The Wilson disease gene: spectrum of mutations and their consequences.
|
7626145 |
1995 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
|
27022412 |
2016 |
|
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 |
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
|
17949296 |
2007 |
|
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
|
A |
0.900 |
CausalMutation
|
CLINVAR |
The H1069Q, R778W and R778L mutations were absent in these WD patients.
|
17160357 |
2007 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Mutational analysis of ATP7B in Chinese Wilson disease patients.
|
27398169 |
2016 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Identification and characterization of a novel splice-site mutation in the Wilson disease gene.
|
25086856 |
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
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
|
23235335 |
2013 |
|
rs28942074
|
|
Hepatolenticular Degeneration
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Arg778Leu/Gln) coexisted in all patients and they were heterozygous and homozygous in the youngest case, respectively, indicating that they may be correlated to the pathogenesis and potentially used as a genetic biomarker for early WD diagnosis.
|
24878384 |
2014 |
|
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
|
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 |