Individual #00122270

ID_report -
Reference PubMed: Fajkusova, PubMed: Sedlackova 2009
Remarks -
Gender M
Consanguinity -
Country Czech Republic
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BMD
Owner name Jana Sedlackova


Phenotypes

dystrophy, muscular, Becker type (BMD) (BMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000094232 - dystrophy, muscular, Becker type (BMD) BMD Isolated (sporadic) - - - IHC DMD decreased Jana Sedlackova



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122738 RNA PTT;SEQ - - DMD 1 Jana Sedlackova



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     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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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     

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Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
X Unknown +/. g.32481660C>A g.32463543C>A - - DMD_000367 - PubMed: Fajkusova, PubMed: Sedlackova 2009 - - Germline - - - 0 - Jana Sedlackova DMD - - - - - 25 NM_004006.2:c.(3328G>T) - pathogenic (recessive) r.[3328g>u, 3277_3432del] p.[Glu1110*, Leu1093_Gln1144del] - - - - - - - - - - - - - - - - - - -
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