Individual #00210408

ID_report 15026783-Pat2
Reference PubMed: Sjarif 2004
Remarks carrier mother
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
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     
0000158973 normal growth and development; glycerol plasma 4.1mmol, urine 58.2mmol, GK activity 22% glycerol kinase deficiency GKD Unknown - - 2y ketoacidosis, somnolence after vomiting, altered consciousness during gastrointestinal episodes - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211484 DNA SEQ - - GK 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

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     

Legacy protein change     

Protein level     
X Maternal (confirmed) +/. - pathogenic (recessive) g.30686158T>C g.30668041T>C - - GK_000025 not in100 normal chromosomes PubMed: Sjarif 2004 - - Germline - - - 0 - Johan den Dunnen GK - - - - - 3 NM_001205019.1:c.182T>C - r.182u>c p.Leu61Pro - - - - - - - - - - - - - - - - - - - -
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