Individual #00034422

ID_report -
Reference PubMed: Chelly 1988, UMD 727 database
Remarks mother carrier
Gender M
Consanguinity -
Country (France)
Population -
Age/Death 22y (22 years)
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases AHC, GKD, MRX
Owner name Johan den Dunnen


Phenotypes

dystrophy, muscular, Duchenne type (DMD) (DMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

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Protein     

Owner     
0000092806 poor psychomotor development, IQ45; 9m-biopsy numerous necrotic muscle fibers, foci regenerating fibers, discrete type 1 fiber predominance, marked increase collagen endomysial tissue dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Johan den Dunnen



Screenings


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Technique     

Tissue     

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Variants found     

Owner     
0000034489 DNA PCRm;Southern;PFGE - - DMD 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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DNA change (cDNA)     

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ClassClinical     

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Exon_old     

DNA/Legacy     

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Predict/AGVGD     

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Predicted     

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CpG     

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mRNA level     

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Protein level     
X Maternal (inferred) +/+ g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 del ~4 Mb (L1+, J66-H1-, 754-, cX54+) PubMed: Chelly 1988, UMD 727 database - - Germline - - - 0 - Johan den Dunnen DMD - - - - - _0_79_ NM_004006.2:c.-244_(*1524_?)del - pathogenic (recessive) r.0? p.0? - - - - - - - - - - - - - - - - - - -
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