Individual #00444047

ID_report PID_15
Reference PubMed: Sarker 2023
Remarks no family history
Gender M
Consanguinity -
Country Bangladesh
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases DMD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-12-11 17:21:28 +01:00 (CET)
Date last edited 2023-12-11 17:31:19 +01:00 (CET)


Phenotypes

dystrophy, muscular, Duchenne type (DMD) (DMD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Age/Diagnosis     

Phenotype/Onset     

Protein     

Owner     
0000333304 calf hypertrophy; Gower sign positive; elevated CPK; no feeding difficulties; no toe walking; poor walking/running ability; no difficulty climbing stairs; no waddling feet/gait; two seizures; muscle weakness; no skinny legs/arms; delayed developmental milestones; no intellectual disability; no delayed speech; not hyperactive DMD - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000445544 DNA PCRm;SEQ-NG - WES DMD 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Parent #1 ?/. - VUS g.145156520G>T g.144398953G>T - - ZEB2_000120 - PubMed: Sarker 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen ZEB2 - - - - 8 NM_014795.3:c.2234C>A - r.(?) p.(Ala745Glu) - - - - - - - - - - - - - -
15 Parent #1 ?/. - VUS g.23891235G>C g.23646088G>C - - MAGEL2_000249 - PubMed: Sarker 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen MAGEL2 - - - - 1 NM_019066.4:c.1655C>G - r.(?) p.(Pro552Arg) - - - - - - - - - - - - - -
X Maternal (inferred) ?/. - VUS g.153009139C>T g.153743685C>T - - ABCD1_000172 - PubMed: Sarker 2023 - - Germline/De novo (untested) - - - - - Johan den Dunnen ABCD1 - - - - 10 NM_000033.3:c.2188C>T - r.(?) p.(Pro730Ser) - - - - - - - - - - - - - -
Legend   How to query  


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