Individual #00122709

ID_report -
Reference PubMed: Tuffery 2005, UMD 1459 database
Remarks seven affecteds
Gender M
Consanguinity -
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 7
Diseases BMD
Owner name Mireille Claustres


Phenotypes

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

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Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000094279 - dystrophy, muscular, Becker type (BMD) BMD Familial, X-linked - - - WB 60% normal DMD Mireille Claustres



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000123177 DNA;RNA PTT;RT-PCR;SEQ - - DMD 1 Mireille Claustres



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     

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Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

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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.32669194T>G g.32651077T>G IVS9-5925A>C - DMD_001367 RNA muscle, major transcript with insertion PubMed: Tuffery 2005, UMD 1459 database - - Germline - - - 0 - Mireille Claustres DMD - - - - - 9i NM_004006.2:c.961-5925A>C - pathogenic (recessive) r.[960_961ins961-5922_961-5833, =] p.[His321Argfs*7, =] - - - - - - - - - - - - - - - - - - -
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