Individual #00265104

ID_report -
Reference PubMed: Neri 2020, Journal: Neri 2020
Remarks carrier female
Gender F
Consanguinity -
Country Italy
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases Healthy/Control
Owner name Alessandra Ferlini


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000202950 - dystrophinopathy - Unknown - - - - - Alessandra Ferlini



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000266224 DNA MLPA - - DMD 1 Alessandra Ferlini



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
X Unknown +/. - pathogenic (recessive) g.(32867903_33038290)_(33229611_33357493)del g.(32849786_33020173)_(33211494_33339376)del del ex01ex02, c.-244-?_93+?del - DMD_010102 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Alessandra Ferlini DMD - - - - - 0i_2i NM_004006.2:c.-244(_-182)_(59_128)[0] - r.0? p.0? - - - - - - - - - - - - - - - - - - - -
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