Individual #00439013

ID_report L-0029
Reference PubMed: Cornelis 2024, Journal: Cornelis 2024
Remarks -
Gender F
Consanguinity -
Country France
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name Frans Cremers
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2023-04-20 09:38:00 +02:00 (CEST)
Date last edited 2025-01-31 14:41:11 +01:00 (CET)


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     
0000328911 - retinal disease STGD1 Familial, autosomal recessive - - - - - Frans Cremers



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000440495 DNA SEQ - - - 3 Frans Cremers



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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 Parent #2 +/. - pathogenic (recessive) g.94476351C>T g.94010795C>T - - ABCA4_000996 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - Frans Cremers ABCA4 - - - - - NM_000350.2:c.5714+5G>A - r.(=,5585_5714del) p.(Glu1863Leufs*33,=) - - - - - - - - - - - - - -
1 Parent #1 +/. - pathogenic (recessive) g.94485279_94485293del g.94019723_94019737del - - ABCA4_000476 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - Frans Cremers ABCA4 - - - - - NM_000350.2:c.5044_5058del - r.(?) p.(Val1682_Val1686del) - - - - - - - - - - - - - -
1 Parent #1 +?/. - likely pathogenic (recessive) g.94486888G>C g.94021332G>C - - ABCA4_000137 - PubMed: Cornelis 2024, Journal: Cornelis 2024 - - Germline yes - - - - Frans Cremers ABCA4 - - - - - NM_000350.2:c.4926C>G - r.(?) p.(Ser1642Arg) - - - - - - - - - - - - - -
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