Individual #00034416

ID_report -
Reference PubMed: Bovolenta 2008
Remarks Pat4
Gender M
Consanguinity -
Country Italy
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MRX
Owner name Alessandra Ferlini


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     
0000092803 - dystrophy, muscular, Duchenne type (DMD) - Unknown - - - - Alessandra Ferlini



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034483 DNA arrayCGH - - DMD 2 Alessandra Ferlini



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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 Parent #1 +/+ g.(?_31138512)_(31227640_31241186)dup g.(?_31120395)_(31209523_31223069)dup g.(31,049,450_31,049,716)_(31,138,870_31,139,129)dup; c.(9361+1_9362-1)_*2691[2] - DMD_026579 89 kb duplication PubMed: Bovolenta 2008 - - Unknown - - - 0 - Alessandra Ferlini DMD - - - - - 64i_79_ NM_004006.2:c.(9339_9538)_(*1524_?)dup - pathogenic (recessive) r.(?) p.(fs*) - - - - - - - - - - - - - - - - - - -
X Parent #1 -/. g.(?_32867938)_(33038255_?)dup - g.(32,898,000dup) - DMD_040075 1.4 kb intronic duplication PubMed: Bovolenta 2008 - - Unknown - - - 0 - Alessandra Ferlini DMD - - - - - 2i NM_004006.2:c.93+?_94-?dup - benign r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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