|
rs267606771
|
|
Becker Muscular Dystrophy
|
|
0.710 |
GeneticVariation
|
BEFREE |
A nonsense mutation (E1211X) due to a G to T transversion at the 28th nucleotide of exon 27 (G3839T) was identified in the dystrophin gene of a Japanese Becker muscular dystrophy case.
|
9410897 |
1997 |
|
rs267606771
|
|
Becker Muscular Dystrophy
|
A |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs398122853
|
|
Becker Muscular Dystrophy
|
T |
0.710 |
CausalMutation
|
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
|
rs398122853
|
|
Becker Muscular Dystrophy
|
|
0.710 |
GeneticVariation
|
BEFREE |
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
|
19793655 |
2009 |
|
rs398122853
|
|
Becker Muscular Dystrophy
|
T |
0.710 |
CausalMutation
|
CLINVAR |
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
|
19793655 |
2009 |
|
rs398122853
|
|
Becker Muscular Dystrophy
|
T |
0.710 |
CausalMutation
|
CLINVAR |
DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.
|
19206170 |
2009 |
|
rs1010666282
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.
|
25244321 |
2014 |
|
rs104894787
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
|
25612904 |
2015 |
|
rs104894787
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
|
21396098 |
2011 |
|
rs104894787
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
How does type 1 diabetes develop?: the notion of homicide or β-cell suicide revisited.
|
21525508 |
2011 |
|
rs104894787
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
|
19367636 |
2009 |
|
rs104894787
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Small mutations of the DMD gene in Taiwanese families.
|
18583217 |
2008 |
|
rs104894787
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
|
18652600 |
2008 |
|
rs104894787
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre.
|
15351422 |
2004 |
|
rs104894787
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Point mutations in the dystrophin gene.
|
1549596 |
1992 |
|
rs104894787
|
|
Becker Muscular Dystrophy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894787
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894788
|
|
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894789
|
|
Muscular Dystrophy, Duchenne
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs104894790
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
|
19937601 |
2009 |
|
rs104894790
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis.
|
19409785 |
2009 |
|
rs104894790
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
|
19783145 |
2009 |
|
rs104894790
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.
|
17145200 |
2007 |
|
rs104894790
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
|
10533061 |
1999 |
|
rs104894790
|
|
Dmd-Associated Dilated Cardiomyopathy
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Characterization of two nonsense mutations in the human dystrophin gene.
|
10320864 |
1998 |