Individual #00034421

ID_report -
Reference PubMed: Romero 1997
Remarks 3-generation family, brother of III.5; carrier mother
Gender M
Consanguinity -
Country France
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 5
Diseases ?, GKD
Owner name Johan den Dunnen


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000035819 - - Familial, X-linked recessive - - asymptomatic (MD); walk:15m - - - - - Johan den Dunnen

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     
0000027817 large increase glycerol elimination urine - - Familial - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034488 DNA PCRm;Southern - - DMD 1 Johan den Dunnen



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.(32429908_32456438)_(32613874_32632499)del g.(32411791_32438321)_(32595757_32614382)del c.(1482+1_1483-1)_(4071+1_4072-1)del - DMD_011329 - PubMed: Romero 1997 - - Germline yes - - 0 - Johan den Dunnen DMD - - - - - 12i_29i NM_004006.2:c.(1403_1602)_(3991_4194)del - pathogenic (recessive) r.(del) p.(del) - - - - - - - - - - - - - - - - - - -
Legend