|
rs1057517954
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.
|
25324868 |
2014 |
|
rs1057517954
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: adrenoleukodystrophy.
|
22071894 |
2012 |
|
rs1057517954
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Two novel mutations in the adrenoleukodystrophy gene in two unrelated Japanese families and the long-term effect of bone marrow transplantation.
|
10980309 |
2000 |
|
rs1057517954
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein.
|
7825602 |
1995 |
|
rs1057517954
|
|
Adrenoleukodystrophy
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review.
|
26227820 |
2016 |
|
rs1064793877
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: adrenoleukodystrophy.
|
22071894 |
2012 |
|
rs1064793877
|
|
Adrenoleukodystrophy
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs11146842
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: adrenoleukodystrophy.
|
22071894 |
2012 |
|
rs11146842
|
|
Adrenoleukodystrophy
|
A |
0.800 |
CausalMutation
|
CLINVAR |
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
|
21700483 |
2012 |
|
rs11146842
|
|
Adrenoleukodystrophy
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Altered expression of ALDP in X-linked adrenoleukodystrophy.
|
7668254 |
1995 |
|
rs11146842
|
|
Adrenoleukodystrophy
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
|
26454440 |
2015 |
|
rs11146842
|
|
Adrenoleukodystrophy
|
A |
0.800 |
CausalMutation
|
CLINVAR |
In the case of X-ALD fibroblasts from an ALD patient (R617H), the mutant ALDP was not detected in the cells, but appeared upon incubation with a proteasome inhibitor.
|
17542813 |
2007 |
|
rs11146842
|
|
Adrenoleukodystrophy
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.
|
15800013 |
2005 |
|
rs11146842
|
|
Adrenoleukodystrophy
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mutational analysis of patients with X-linked adrenoleukodystrophy.
|
7581394 |
1995 |
|
rs11146842
|
|
Adrenoleukodystrophy
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Suppression of peroxisomal membrane protein defects by peroxisomal ATP binding cassette (ABC) proteins.
|
9425230 |
1998 |
|
rs11146842
|
|
Adrenoleukodystrophy
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
|
8040304 |
1994 |
|
rs11146842
|
|
Adrenoleukodystrophy
|
A |
0.800 |
CausalMutation
|
CLINVAR |
X-linked adrenoleukodystrophy: diagnostic and follow-up system in Japan.
|
21068741 |
2011 |
|
rs111966833
|
|
Adrenoleukodystrophy
|
|
0.010 |
GeneticVariation
|
BEFREE |
In five other patients (two with ACP and three with ALD) other rare variants, including P55S, were found.
|
12939655 |
2003 |
|
rs1131691743
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: adrenoleukodystrophy.
|
22071894 |
2012 |
|
rs1131691743
|
|
Adrenoleukodystrophy
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
|
8566952 |
1996 |
|
rs1131691743
|
|
Adrenoleukodystrophy
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.
|
23419472 |
2013 |
|
rs1131691916
|
|
Adrenoleukodystrophy
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females.
|
15811009 |
2005 |
|
rs1131691916
|
|
Adrenoleukodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: adrenoleukodystrophy.
|
22071894 |
2012 |
|
rs1131691916
|
|
Adrenoleukodystrophy
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
|
10737980 |
2000 |
|
rs1131691954
|
|
Adrenoleukodystrophy
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: adrenoleukodystrophy.
|
22071894 |
2012 |