Individual #00122596

ID_report -
Reference PubMed: Suminaga, PubMed: Takeshima 2010
Remarks -
Gender M
Consanguinity -
Country Japan
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BMD
Owner name Masafumi Matsuo


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000094263 elevated serum CPK (HP:0003236) 1607-21100 dystrophy, muscular, Becker type (BMD) BMD;hCK Unknown 8y - - IHC DMD C-terminal 0, N-terminal weak, patchy, discontinuous staining Masafumi Matsuo



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

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Genes screened     

Variants found     

Owner     
0000123064 DNA;RNA SEQ - - DMD 1 Masafumi Matsuo



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     

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ClassClinical     

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P-domain     

Exon_old     

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Predict/AGVGD     

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Predicted     

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CpG     

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mRNA level     

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Protein level     
X Parent #1 +/. g.31164456G>A g.31146339G>A - - DMD_001109 - PubMed: Suminaga, PubMed: Takeshima 2010 - - Germline - - - 0 - Masafumi Matsuo DMD - - - - - 76 NM_004006.2:c.10873C>T - pathogenic (recessive) r.10873c>u p.Gln3625* - - - - - - - - - - - - - - - - - - -
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