Individual #00210407

ID_report 15026783-Pat1
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     

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Protein     

Owner     
0000158972 4.5y-mild asymmetric spasticity, convergent strabismus, myopia, mild facial dysmorphism, pseudohypertriglyceridemia; glycerol plasma 2.78mmol, urine 170mmol, GK activity 3%; mild intellectual disability glycerol kinase deficiency GKD Unknown - - 2y episodic vomiting, dysmorphic, mild mental retardation, hyperactivity - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000211483 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     

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Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

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Predict/Splice     

Legacy protein change     

Protein level     
X Maternal (confirmed) +/. - pathogenic (recessive) g.30738188A>C g.30720071A>C 1194A>C (E398D) - GK_000024 not in100 normal chromosomes PubMed: Sjarif 2004 - - Germline - - - 0 - Johan den Dunnen GK - - - - - 16 NM_001205019.1:c.1212A>C - r.1212a>c p.Glu404Asp - - - - - - - - - - - - - - - - - - - -
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