Individual #00034406

ID_report -
Reference PubMed: Zhang 2004
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
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     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000092793 intellectual disability (HP:0001249) dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034473 DNA PCR - - DMD, GK, IL1RAPL1, NR0B1 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)     

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     

ClassClinical     

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     

Protein level     
X Unknown +/+ g.(?_31138512)_(33229611_?)del g.(?_31120395)_(33211494_?)del c.-244_*2691[0] - DMD_010079 deletion incl. IL1RAPL1, NR0B1, GK PubMed: Zhang 2004 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen DMD, GK, IL1RAPL1, NR0B1 - - - - - _0_79_, _1_21_, _1_11_, _1_2_ NM_004006.2:c.-244_(*1524_?)del, NM_001205019.1:c.(?_-1)_(*1_?)del, NM_014271.3:c.(?_-1)_(*1_?)del, NM_000475.4:c.(?_-1)_(*1_?)del - pathogenic (recessive), r.0 p.0 - - - - - - - - - - - - - - - - - - -
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