Individual #00033638

ID_report -
Reference PubMed: Bauwens 2014
Remarks family, 1 patient
Gender M
Consanguinity no
Country Belgium
Population Belgian
Age at death -
VIP -
Data_av -
Treatment -
Panel size 23
Diseases STGD
Owner name Miriam Bauwens
Database submission license No license selected
Created by Miriam Bauwens
Date created 2014-10-11 14:12:32 +02:00 (CEST)
Date last edited 2016-07-15 09:34:48 +02:00 (CEST)


Phenotypes

Stargardt disease (STGD) (STGD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000027067 Stargardt disease, severe; severe cone-rod dystrophy; y37, visual acuity OD: 20/400, OS: 20/400. y32: Severe chorioretinal atrophy, macula up to periphery most affected - - Familial, autosomal recessive >07y - - - - Miriam Bauwens



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033706 DNA SEQ-NG-I - - ABCA4 2 Miriam Bauwens



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
1 Parent #1 +?/. - likely pathogenic g.94493000C>T g.94027444C>T V4 - ABCA4_000015 deep intronic splice variant, first identified by Braun (2013) PubMed: Bauwens 2014 - - Germline yes - - - - Miriam Bauwens ABCA4 - - - - 30i NM_000350.2:c.4539+2001G>A - r.spl? p.(?) - - - - - - - - - - - - - -
1 Parent #2 +/. - pathogenic g.94508997G>A g.94043441G>A - - ABCA4_000112 - PubMed: Bauwens 2014 - - Germline - - - - - Miriam Bauwens ABCA4 - - - - 21 NM_000350.2:c.3085C>T - r.(?) p.(Gln1029*) - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.