Individual #00080789

ID_report -
Reference -
Remarks -
Gender ?
Consanguinity no
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases STGD
Owner name Lonneke Haer-Wigman
Database submission license No license selected
Created by Lonneke Haer-Wigman
Date created 2016-09-13 16:17:39 +02:00 (CEST)
Date last edited 2016-09-15 09:01:58 +02:00 (CEST)


Phenotypes

Stargardt disease (STGD) (STGD)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000060358 - - - Familial, autosomal recessive - - - - - Lonneke Haer-Wigman



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000080901 DNA SEQ-NG - - - 2 Lonneke Haer-Wigman



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     

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 Unknown +/+ - pathogenic g.94493000C>T g.94027444C>T - - ABCA4_000015 - - - - Germline - - - - - Lonneke Haer-Wigman ABCA4 - - - - 30i NM_000350.2:c.4539+2001G>A - r.spl? p.(?) - - - - - - - - - - - - - -
1 Unknown +/? - pathogenic g.94564484G>A g.94098928G>A - - ABCA4_000036 - {CV:RCV000179293.1}, {CV:RCV000008355.4} - rs61750200 Germline - - - - - Lonneke Haer-Wigman ABCA4 - - - - 13 NM_000350.2:c.634C>T - r.(?) p.(Arg212Cys) - - - - - - - - - - - - - -
Legend   How to query  


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