Individual #00022454

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MRX-15
Owner name Anneke Vulto-van Silfhout


Phenotypes

mental retardation, X-linked, syndromic, type 15 (MRX-15, Cabezas type) (MRX-15)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Birth_Details     

Protein     

Owner     
0000020210 - - - Familial - - - - - - Anneke Vulto-van Silfhout



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022442 DNA arrayCGH;SEQ-NG - - CUL4B 1 Anneke Vulto-van Silfhout



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     

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Reference     

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Origin     

Segregation     

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VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

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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     

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Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
X Maternal (confirmed) +/. g.119694673_119700420del g.120560818_120566565del hg18 chrX:g.119578701_119584448del - CUL4B_000022 variant does not affect the gene, but qPCR revealed a complete loss of CUL4B expression Vulto-van Silfhout, submitted - - Germline - - - 0 - Anneke Vulto-van Silfhout CUL4B - - - - - 2i NM_003588.3:c.68-5940_68-193del - - r.0 p.0 - - - - - - - - - - - - - - - - - - -
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