Individual #00019897

ID_report -
Reference PubMed: Gilissen 2014
Remarks -
Gender ?
Consanguinity ?
Country ? (unknown)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ID
Owner name Marianne Vos (LOVD-team)


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     
0000020351 - - Unknown - - - - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000019890 DNA SEQ - - ATP7B, CEP170B 2 Marianne Vos (LOVD-team)



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

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     
13 Unknown -?/. g.52536008G>A g.51961872G>A Asn637Asn - ATP7B_000005 - PubMed: Gilissen 2014 - - De novo - - - 0 - Marianne Vos (LOVD-team) ATP7B - - - - - 6 NM_000053.3:c.1911C>T - - r.(?) p.(Asn637=) - - - - - - - - - - - - - - - - - - -
14 Unknown -?/. g.105352391G>C g.104886054G>C Pro653Pro - CEP170B_000001 - PubMed: Gilissen 2014 - - De novo - - - 0 - Marianne Vos (LOVD-team) CEP170B - - - - - - NM_001112726.2:c.1959G>C - - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
Legend