Individual #00022453

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 2
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     
0000020211 - - - Familial - - - - - - Anneke Vulto-van Silfhout



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000022440 DNA SEQ-NG - - - 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     

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 Maternal (confirmed) +/. g.119694066_119694067del g.120560211_120560212del - - CUL4B_000014 - - - - Germline yes - - 0 - Anneke Vulto-van Silfhout CUL4B - - - - - 3 NM_003588.3:c.481_482del - - r.(?) p.(Ser161Tyrfs*24) - - - - - - - - - - - - - - - - - - -
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