Individual #00275958

ID_report CCM509
Reference -
Remarks -
Gender F
Consanguinity -
Country Israel
Population -
Age at death 07y (7 years)
VIP -
Data_av -
Treatment -
Panel size 1
Diseases MICPCH
Owner name Enza Maria Valente
Database submission license No license selected
Created by Enza Maria Valente
Date created 2020-01-21 17:12:46 +01:00 (CET)
Date last edited 2020-01-24 14:41:21 +01:00 (CET)


Phenotypes

mental retardation, microcephaly with pontine, cerebellar hypoplasia (MICPCH) (MICPCH)   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     
0000210640 - - - Familial, X-linked dominant - - - - - - Enza Maria Valente



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000277111 DNA MLPA blood - - 1 Enza Maria Valente



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 Unknown +?/. - likely pathogenic g.(41530784_41598636)_(41604855_41646430)del g.(41671531_41739383)_(41745602_41787177)del del exons 4-5 - CASK_000094 - - - - De novo - - - - - Enza Maria Valente CASK - - - - 3i_5i NM_003688.3:c.(278+1_279-1)_(429+1_430-1)del - r.? p.? - - - - - - - - - - - - - -
Legend   How to query  


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