rs267606771
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Becker Muscular Dystrophy
A
0.710
CausalMutation
CLINVAR
rs267606771
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
rs398122853
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Becker Muscular Dystrophy
A
0.700
CausalMutation
CLINVAR
rs104894787
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Muscular Dystrophy, Duchenne
A
0.700
CausalMutation
CLINVAR
rs104894787
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Point mutations in the dystrophin gene.
1549596
1992
rs104894787
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Small mutations of the DMD gene in Taiwanese families.
18583217
2008
rs104894787
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
18652600
2008
rs104894787
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
rs104894788
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG B-WAVE
T
0.700
CausalMutation
CLINVAR
rs104894789
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Muscular Dystrophy, Duchenne
A
0.700
CausalMutation
CLINVAR
rs104894790
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Characterization of two nonsense mutations in the human dystrophin gene.
10320864
1998
rs104894790
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test.
7668256
1995
rs104894790
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
Dmd-Associated Dilated Cardiomyopathy
A
0.700
CausalMutation
CLINVAR
Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.
8281150
1993
rs104894790
×
Entrez Id:
1756
Gene Symbol:
DMD
DMD
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