Individual #00142697

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country Italy
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BMD, CMD-3B
Owner name Alessandra Ferlini


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

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Phenotype/Onset     

Protein     

Owner     
0000115445 - dystrophy, muscular, Becker type (BMD) dystrophy, muscular, Becker type (BMD);CMD-3B Unknown - - - ? Alessandra Ferlini



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000143537 DNA MLPA;PCR - - DMD 1 Alessandra Ferlini



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Owner     

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Codon change     

IDbase Accession Number     

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VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

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CodonNr     

Method     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

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Protein/Stain     

Protein level     
X Parent #1 g.(31893491_31947712)_(31986632_32235032)del - - - DMD_014547 - - - - Germline - - - 0 - Alessandra Ferlini DMD +/. - - - - - 44i_47i NM_004006.2:c.(6438+1_6439-1)_(6912+1_6913-1)del - - r.(6439_6912del) p.(del) - - - - - - - - - - - - - - - - - - - - - - -
Legend