Individual #00022452

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MRXSC
Owner name Anneke Vulto-van Silfhout
Database submission license No license selected
Created by Anneke Vulto-van Silfhout
Date created 2014-10-12 15:24:14 +02:00 (CEST)
Date last edited 2014-10-14 22:23:26 +02:00 (CEST)


Phenotypes

Mental retardation, X-linked, syndromic 15 (Cabezas type) (MRXSC)   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     
0000020213 - - - Isolated (sporadic) - - - - - - Anneke Vulto-van Silfhout



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022439 DNA;RNA RT-PCR;SEQ;SEQ-NG - - CUL4B 1 Anneke Vulto-van Silfhout



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     
X Maternal (confirmed) +/. - pathogenic g.119672514C>A g.120538659C>A - - CUL4B_000016 - - - - Germline yes - - - - Anneke Vulto-van Silfhout CUL4B - - - - 15i NM_003588.3:c.1906+1G>T - r.1796_1906del p.Gly599_His635del - - - - - - - - - - - - - -
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