Individual #00314909

ID_report Trio103
Reference PubMed: Zhu 2015
Remarks -
Gender M
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-10-20 15:09:17 +02:00 (CEST)
Date last edited N/A


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000238667 - - Global developmental delay (cannot hold head up or sit up), microcephaly, infantile spasms, cortical visual impairment, West Syndrome, increased nuchal fold prenatally, history of sinus bradycardia, CSF abnormalities in neurotransmitter metabolites, periventricular calcifications, cereberal atrophy with prominet white matter loss, elevated choline and low N-acetylaspartatate in inferior, frontal, temporal, and parietal lobes bilaterally. Elevated startle reflex, involuntary movements. Unknown 1y19m - 3m - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000316083 DNA SEQ;SEQ-NG - trio WES COL4A1 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     

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/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
13 Unknown +?/. - VUS g.110861756C>T g.110209409C>T - - COL4A1_000230 - PubMed: Zhu 2015 - - De novo - - - - - Johan den Dunnen COL4A1 - - - - - NM_001845.4:c.634G>A - r.(?) p.(Gly212Ser) - - - - - - - - - - - - - -
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