Individual #00367153

ID_report 33
Reference PubMed: Salles 2018
Remarks -
Gender M
Consanguinity yes
Country Brazil
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     
0000262491 At the age of 10, the visual acuity was 20/200 20/200 (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals. Stargardt disease STGD1 Unknown - - 10y first symptoms - Stéphanie Cornelis



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000368381 DNA SEQ-NG-I - - ABCA4 1 Stéphanie Cornelis



Variants

1 entry on 1 page. Showing entry 1.
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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 Both (homozygous) +/. - pathogenic (recessive) g.94502295C>T g.94036739C>T c.3862+1G>A† p.? - ABCA4_000589 - PubMed: Salles 2018 - - Unknown yes - - - - Stéphanie Cornelis ABCA4 - - - - 26i NM_000350.2:c.3862+1G>A - r.spl p.? - - - - - - - - - - - - - -
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