Individual #00034423

ID_report -
Reference L Medne ASHG 2010 A1669
Remarks younger brother of A1669Pat5
Gender M
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases GKD
Owner name Johan den Dunnen


Phenotypes

deficiency, glycerol kinase (GKD) (GKD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000035812 - - - Unknown - - - - - Johan den Dunnen

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

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000115950 hypotonia, developmental delay; FTT, raised lactate/transaminases; elevated serum CPK (HP:0003236) 18061 dystrophy, muscular, Duchenne type (DMD) dystrophy, muscular, Duchenne type (DMD) Isolated (sporadic) 02y - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034490 DNA arrayCGH;arraySNP - - DMD, GK 1 Johan den Dunnen



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 Maternal (confirmed) +/+ g.(30700000_30765000)_(31121918_31465000)del - - - DMD_040261 658 kb deletion incl. GKD_3'DMD L Medne ASHG 2010 A1669 - - Germline - - - 0 - Johan den Dunnen DMD, GK - - - - - _79_, -1-21_ NM_004006.2:c.?_(11047-1_*1)del, NM_001205019.1:c.(?_-1)_(*1_?)del - pathogenic (recessive), r.(del?), r.0? p.(del?), p.0? - - - - - - - - - - - - - - - - - - -
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