Individual #00139448

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Serbia
Population Montenegro
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases DMD
Owner name Tanja Lalic


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     
0000112196 - dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Tanja Lalic



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000140288 DNA PCRm - - DMD 1 Tanja Lalic



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.(33038290_33229611)_(33229611_?)del g.(33020173_33211494)_(33211494_?)del c.-244_(31+1_32-1)del - DMD_010001 deletion includes Dp427c - - - Germline - - - 0 - Tanja Lalic DMD - - - - - _0_1i NM_004006.2:c.-244_(-182_59)del - pathogenic (recessive) r.0? p.0? - - - - - - - - - - - - - - - - - - -
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