Individual #00138582

ID_report -
Reference PubMed: Gualandi 2006
Remarks -
Gender M
Consanguinity -
Country (United Kingdom (Great Britain));(Italy)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases -
Owner name Johan den Dunnen


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000111330 - dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000139422 DNA;RNA PCRq;SEQ - - DMD 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
X Unknown +/. - pathogenic (recessive) g.(32841505_32862899)_(33038318_33229398)dup g.(32823388_32844782)_(33020201_33211281)dup - - DMD_060204 RNA muscle, 2 transcripts 50% PubMed: Gualandi 2006 - - Germline - - - 0 - Johan den Dunnen DMD - - - - - 1i_4i NM_004006.2:c.(31+1_32-1)_(264+1_265-1)dup - r.[=,32_264dup] p.[=, Asn88_Val89insMetfs*15] - - - - - - - - - - - - - - - - - - - -
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