Individual #00306364

ID_report ?
Reference PubMed: Takeshima 2010
Remarks analysis 442 BMD/DMD cases
Gender M
Consanguinity -
Country Japan
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases BMD/DMD
Owner name Masafumi Matsuo
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-07-14 15:01:41 +02:00 (CEST)
Date last edited N/A


Phenotypes

dystrophinopathy (BMD or DMD) (BMD/DMD)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000232204 BMD BMD? - Unknown - - - - - Masafumi Matsuo



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000307500 DNA MLPA - - DMD 1 Masafumi Matsuo



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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
X Unknown +/. - pathogenic (recessive) g.(32632518_32662406)_(32717219_32827702)dup g.(32614401_32644289)_(32699102_32809585)dup dup ex8-11 - DMD_020811 - PubMed: Takeshima 2010 - - Germline/De novo (untested) - - - - - Masafumi Matsuo DMD - - - - 7i_11i NM_004006.2:c.(557_831+10)_(1174_1384)dup - r.? p.(fs) - - - - - - - - - - - - - -
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