Individual #00144704

ID_report 18465152-Fam07
Reference PubMed: Vermeer 2008
Remarks -
Gender -
Consanguinity yes
Country Netherlands
Population Dutch
Age at death -
VIP -
Data_av -
Treatment -
Panel size 7
Diseases ataxia
Owner name Johan den Dunnen
Database submission license No license selected
Created by Bernard Brais
Date created 2013-04-08 22:14:41 +02:00 (CEST)
Date last edited 2013-04-09 17:31:36 +02:00 (CEST)


Phenotypes

ataxia (ataxia)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Phenotype details     

Inheritance     

Age/Examination     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000117438 ataxia - - Unknown - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000145561 DNA SEQ - - SACS 1 Johan den Dunnen



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     
13 Both (homozygous) +/? - pathogenic g.23932576C>A g.23358437C>A p.Asp168Tyr - SACS_000105 ATPase domain PubMed: Vermeer 2008 - - Germline - - - - - Johan den Dunnen SACS - - - - 7 NM_014363.5:c.502G>T - r.(?) p.(Asp168Tyr) - - - - - - - - - - - - - -
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