Individual #00077983

ID_report -
Reference PubMed: Burke 2014
Remarks -
Gender M
Consanguinity ?
Country -
Population Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin.
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases STGD1
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2016-02-22 12:22:09 +01:00 (CET)
Date last edited N/A


Phenotypes

Stargardt disease, type 1 (STGD1) (STGD1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000057758 Stargardt disease; y15, OD: visual acuity 0.8, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity 0.8, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. - - Unknown - - 11y - - Stéphanie Cornelis



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078159 DNA PE;SEQ;SEQ-NG-R - APEX ABCA4 2 Stéphanie Cornelis



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     

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VIP     

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Owner     

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IDbase Accession Number     

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P-domain     

Exon_old     

Function/GVS     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Unknown +?/. - likely pathogenic g.94467467G>A g.94001911G>A p.R2077W - ABCA4_000780 - PubMed: Burke 2014 - - Germline ? - - - - Stéphanie Cornelis ABCA4 - - - - 45 NM_000350.2:c.6229C>T - r.(?) p.(Arg2077Trp) - - - - - - - - - - - - - -
1 Unknown +?/. - likely pathogenic g.94471065G>A g.94005509G>A p.L2027F - ABCA4_000384 - PubMed: Burke 2014 - - Germline - 26, 121404, 0, 0.0002142 - - - Stéphanie Cornelis ABCA4 - - - - 44 NM_000350.2:c.6079C>T - r.(?) p.(Leu2027Phe) - - - - - - - - - - - - - -
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