Individual #00122390

ID_report -
Reference PubMed: Feng
Remarks family with seven affecteds
Gender M
Consanguinity -
Country United States
Population African-American
Age/Death 11y (11 years)
VIP 0
Data_av -
Treatment -
Panel size 7
Diseases BMD
Owner name Johan den Dunnen


Phenotypes

cardiomyopathy, dilated (CMD) (CMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000094234 - dilated cardiomyopathy CMD-3B Familial, X-linked - 11y - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122858 DNA DOVAM - - 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)     

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 Parent #1 +/. g.33229398C>A g.33211281C>A - - DMD_000025 - PubMed: Feng - - Germline - - MseI+ 0 - Johan den Dunnen DMD - - - - - 1i NM_004006.2:c.31+1G>T - pathogenic (recessive) r.0 p.0 - - - - - - - - - - - - - - - - - - -
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