Individual #00122233

ID_report 10196701-PatD320
Reference PubMed: Kekou 1999
Remarks -
Gender M
Consanguinity -
Country Greece
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BMD
Owner name Kyriaki Kekou


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     
0000094230 13y-CPK 7000 (IU/L), no muscle biopsy, no mental retardation (-HP:0001249) dystrophy, muscular, Becker type (BMD) BMD Isolated (sporadic) - - - - Kyriaki Kekou



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122701 DNA;RNA RT-PCR;SEQ;SSCA - - DMD 1 Kyriaki Kekou



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     

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 Unknown +/. g.31187603_31187604del g.31169486_31169487del 10716delGA - DMD_000230 - PubMed: Kekou 1999 - - Germline - - - 0 - Kyriaki Kekou DMD - - - - - 74 NM_004006.2:c.10509_10510del - pathogenic (recessive) r.10224_10553del p.Pro3409_Arg3518del - - - - - - - - - - - - - - - - - - -
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