Individual #00033640

ID_report -
Reference PubMed: Bauwens 2014
Remarks -
Gender F
Consanguinity no
Country -
Population Arab
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases STGD
Owner name Miriam Bauwens
Database submission license No license selected
Created by Miriam Bauwens
Date created 2014-10-11 14:32:12 +02:00 (CEST)
Date last edited 2023-02-23 09:56:23 +01:00 (CET)


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     
0000027069 - - - Familial, autosomal recessive - - - - - Miriam Bauwens



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033708 DNA SEQ-NG-I - - ABCA4 2 Miriam Bauwens



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
1 Maternal (confirmed) +?/. - likely pathogenic g.94484002G>T g.94018446G>T - - ABCA4_000017 - PubMed: Bauwens 2014 - - Germline yes - - - - Miriam Bauwens ABCA4 - - - - 36i NM_000350.2:c.5196+1136C>A - r.spl p.? - - - - - - - - - - - - - -
1 Paternal (confirmed) ?/. - VUS g.94497563C>T g.94032007C>T - - ABCA4_000090 - PubMed: Bauwens 2014 - - Germline - ExAC 0.00638 - - - Johan den Dunnen ABCA4 - - - - 27 NM_000350.2:c.3899G>A - r.(?) p.(Arg1300Gln) - - - - - - - - - - - - - -
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