Individual #00180165

ID_report 29286531-Pat17
Reference PubMed: Tumienė 2018
Remarks -
Gender -
Consanguinity -
Country (Slovenia)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
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     
0000142619 epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations MRX-15, Cabezas syndrome Familial, X-linked recessive - - Epilepsy (in infancy) (HP:0001250), moderate intellectual disability (HP:0002342), short stature (HP:0004322), facial dysmorphism (HP:0001999). - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181068 DNA SEQ-NG - WES CUL4B 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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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 Parent #1 +/. g.119678034G>A - - - CUL4B_000002 - PubMed: Tumienė 2018 - - Germline - - - 0 - Johan den Dunnen CUL4B - - - - - 9 NM_003588.3:c.1162C>T - ACMG: 5 r.(?) p.(Arg388*) - - - - - - - - - - - - - - - - - - -
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