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     

Age/Examination     

Age/Onset     

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.
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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     

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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.(31893385_31947815)_(31986532_32235089)del g.(31875268_31929698)_(31968415_32216972)del c.(6438+1_6439-1)_(6912+1_6913-1)del - DMD_014547 - - - - Germline - - - 0 - Alessandra Ferlini DMD - - - - - 44i_47i NM_004006.2:c.(6382_6538)_(6810_7018)del - pathogenic (recessive) r.(6439_6912del) p.(del) - - - - - - - - - - - - - - - - - - -
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