Individual #00183690

ID_report 27620904-Pat35
Reference PubMed: Martinez 2017, Journal: Martinez 2017
Remarks -
Gender -
Consanguinity -
Country Spain
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Johan den Dunnen


Phenotypes

intellectual disability (ID) (ID)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Birth_Details     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Intellectual_dis     

Speech     

Development     

Protein     

Owner     
0000144376 intellectual disability - Unknown - - - - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184658 DNA SEQ;SEQ-NG - 1256 gene panel HDAC2 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend  

Chr     

Allele     

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     

Effect     

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     

Protein/Legacy     

CodonNr     

Method     

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/Stain     

Protein level     
6 Unknown g.114281152C>T - - - HDAC2_000003 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - 0 - Johan den Dunnen HDAC2 +?/. - - - - - 2 NM_001527.3:c.83G>A - likely pathogenic r.(?) p.(Gly28Asp) - - - - - - - - - - - - - - - - - - - - - - -
Legend