Individual #00121993

ID_report -
Reference PubMed: Gardner, PubMed: Roberts, OMIM:var0054
Remarks uncle of 7668256-11a
Gender M
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases BMD
Owner name Emma Ashton


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     
0000094211 CPK 800; loss ability to walk (HP:0006957) 21y dystrophy, muscular, Becker type (BMD) BMD Unknown - - - - Emma Ashton



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000122461 DNA;RNA PTT - - DMD 1 Emma Ashton



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     

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     

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Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
X Parent #1 +/. g.32235179G>A g.32217062G>A - - DMD_000054 - PubMed: Gardner, PubMed: Roberts, OMIM:var0054 - - Germline - - - 0 - Emma Ashton DMD - - - - - 44 NM_004006.2:c.6292C>T - pathogenic (recessive) r.6292c>u p.Arg2098* - - - - - - - - - - - - - - - - - - -
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