rs794727272
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function.
|
25340340 |
2014 |
rs104894787
|
|
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Point mutations in the dystrophin gene.
|
1549596 |
1992 |
rs104894787
|
|
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Small mutations of the DMD gene in Taiwanese families.
|
18583217 |
2008 |
rs104894787
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
|
18652600 |
2008 |
rs104894787
|
|
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
|
|
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
How does type 1 diabetes develop?: the notion of homicide or β-cell suicide revisited.
|
21525508 |
2011 |
rs104894790
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterization of two nonsense mutations in the human dystrophin gene.
|
10320864 |
1998 |
rs104894790
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
|
19783145 |
2009 |
rs104894790
|
|
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 |
rs104894797
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
|
17041906 |
2007 |
rs104894797
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening.
|
10909857 |
2000 |
rs104894797
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.
|
10094565 |
1999 |
rs104894797
|
|
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 |
rs104894797
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
|
17259292 |
2007 |
rs104894797
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
|
20485447 |
2010 |
rs104894797
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes.
|
18652600 |
2008 |
rs104894797
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.
|
9544849 |
1998 |