Individual #00164489

ID_report DMD_CASE_0122
Reference -
Remarks unpublished data
Gender M
Consanguinity ?
Country Turkey
Population -
Age/Death >14y (later than 14 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CMD-3B
Owner name Güven Toksoy


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     
0000129528 Cardiomyopathy, dilated, 3B Cardiomyopathy, dilated, 3B Cardiomyopathy, dilated, 3B Familial, X-linked recessive 14y - - NOT INVESTIGATED Güven Toksoy



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000165355 DNA SEQ-NG-IT periferic blood cells targeted gene panel DMD 1 Güven Toksoy



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 Maternal (confirmed) +/. g.32361358G>A - - - DMD_002602 - - - - Germline yes 1/279 cases - 0 - Güven Toksoy DMD - - - - - 40 NM_004006.2:c.5632C>T - pathogenic (recessive) r.(?) p.(Gln1878*) - - - - - - - - - - - - - - - - - - -
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