Individual #00077999

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     
0000057774 Stargardt disease; y43, OD: visual acuity 1. OS: visual acuity 0, ‘‘resorbed’’ flecks with widespread atrophy of the RPE. - - Unknown - - 36y - - Stéphanie Cornelis



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000078175 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     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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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 Unknown +/. - pathogenic g.94480241G>A g.94014685G>A p.A1773V - ABCA4_000446 - PubMed: Burke 2014 - - Germline - 14, 121408, 0, 0.0001153 - - - Stéphanie Cornelis ABCA4 - - - - 38 NM_000350.2:c.5318C>T - r.(?) p.(Ala1773Val) - - - - - - - - - - - - - -
1 Unknown +?/. - likely pathogenic g.94487402C>G g.94021846C>G p.G1591G - ABCA4_000496 - PubMed: Burke 2014 - - Germline ? - - - - Stéphanie Cornelis ABCA4 - - - - 33 NM_000350.2:c.4773G>C - r.(?) p.(=, ?) - - - - - - - - - - - - - -
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