Individual #00122460

ID_report -
Reference PubMed: Tuffery-Giraud, OMIM:var0081, UMD 1596 database
Remarks -
Gender M
Consanguinity -
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
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     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000094251 elevated serum CPK (HP:0003236) dystrophy, muscular, Becker type (BMD) BMD Isolated (sporadic) - 18y high CK - Mireille Claustres



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122928 DNA;RNA PTT;RT-PCR - - DMD 1 Mireille Claustres



Variants

1 entry on 1 page. Showing entry 1.
Legend  

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 Maternal (confirmed) +/. g.32479520T>C g.32461403T>C IVS25+2036A>G - DMD_000519 RNA muscle; somatic mosaicism mother PubMed: Tuffery-Giraud, OMIM:var0081, UMD 1596 database - - Germline - - - 0 - Mireille Claustres DMD - - - - - 25i NM_004006.2:c.3432+2036A>G - pathogenic (recessive) r.[=, 3432_3433ins3432+2037_3432+2131] p.[=, Gln1144ins11*] - - - - - - - - - - - - - - - - - - -
Legend