Individual #00364695

ID_report 23
Reference PubMed: Burke 2011
Remarks -
Gender F
Consanguinity ?
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name Stéphanie Cornelis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Stéphanie Cornelis
Date created 2021-05-03 14:25:36 +02:00 (CEST)
Date last edited N/A


Phenotypes

retinal disease (-)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000260033 At the age of 18, the visual acuity was 20/50 (OS). ERG group I and fundus autofluorescenceabnormalities : extramacular Stargardt disease STGD1 Unknown - - - unknown - Stéphanie Cornelis



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000365923 DNA PE;SEQ - 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     

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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     

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Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
1 Unknown ?/. - VUS g.94485257C>T g.94019701C>T V1693I - ABCA4_000100 - PubMed: Burke 2011 - - Unknown - - - - - Stéphanie Cornelis ABCA4 - - - - 36 NM_000350.2:c.5077G>A - r.(?) p.(Val1693Ile) - - - - - - - - - - - - - -
1 Unknown +?/. - likely pathogenic (recessive) g.94486896G>A g.94021340G>A R1640W - ABCA4_000085 - PubMed: Burke 2011 - - Unknown - - - - - Stéphanie Cornelis ABCA4 - - - - 35 NM_000350.2:c.4918C>T - r.(?) p.(Arg1640Trp) - - - - - - - - - - - - - -
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