Individual #00074140

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Italy
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases GCE
Owner name Johan Van Hove
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

encephalopathy, glycine (GCE) (GCE)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Owner     
0000053957 - Familial, autosomal recessive - - - - - - - Johan Van Hove



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074301 DNA SEQ - - AMT 2 Johan Van Hove



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

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     
3 Parent #1 +/. - pathogenic g.49455301del g.49417868del - - AMT_000039 - - - - Germline yes - - 0 - Johan Van Hove AMT - - - - - 8 NM_000481.3:c.987del - r.(?) p.(Met330Cysfs*8) - - - - - - - - - - - - - - - - - - -
3 Parent #2 +/. - pathogenic g.49456487C>T g.49419054C>T - - AMT_000049 - - - - Germline yes - - 0 - Johan Van Hove AMT - - - - - 7 NM_000481.3:c.794G>A - r.(?) p.(Arg265His) - - - - - - - - - - - - - - - - - - -
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