Individual #00150813

ID_report 28116794-Pat?
Reference PubMed: De Almeida 2017
Remarks -
Gender M
Consanguinity -
Country Brazil
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases DMD
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     
0000123207 - dystrophy, muscular, Duchenne type (DMD) DMD Unknown - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000151668 DNA MLPA - - DMD 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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 Maternal (inferred) +/. - pathogenic (recessive) g.(31947815_31950253)_(31986532_32235089)del g.(31929698_31932136)_(31968415_32216972)del del ex17-20, 37-40 and 45-46 - DMD_014546 non-contiguous deletion ex17-20, ex37-40 and ex45-46 PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen DMD - - - - - 44i_46i NM_004006.2:c.(6382_6538)_(6706_6810)del - - - - - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) +/. - pathogenic (recessive) g.(32360327_32361426)_(32380940_32382772)del g.(32342210_32343309)_(32362823_32364655)del del ex17-20, 37-40 and 45-46 - DMD_013740 non-contiguous deletion ex17-20, ex37-40 and ex45-46 PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen DMD - - - - - 36i_40i NM_004006.2:c.(5081_5290)_(5587-23_5812)del - - - - - - - - - - - - - - - - - - - - - - -
X Maternal (inferred) +/. - pathogenic (recessive) g.(32503130_32509573)_(32563359_32583959)del g.(32485013_32491456)_(32545242_32565842)del del ex17-20, 37-40 and 45-46 - DMD_011720 non-contiguous deletion ex17-20, ex37-40 and ex45-46 PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen DMD - - - - - 16i_20i NM_004006.2:c.(1852_2085)_(2443_2709)del - r.? p.? - - - - - - - - - - - - - - - - - - - -
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