Individual #00394339

ID_report SD4
Reference PubMed: Thorsteinsson 2021
Remarks -
Gender ?
Consanguinity -
Country Iceland
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2021-12-01 10:17:04 +01:00 (CET)
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     
0000287543 SD, symptoms 35 y, also hearing impairment - Stargardt disease Familial, autosomal recessive - - 35y - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000395586 DNA SEQ-NG - retrospective analysis ABCA4 2 LOVD



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 ?/. - VUS g.94476377C>T g.94010821C>T ABCA4 c.5693G>A, p.Arg1898His - ABCA4_000411 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - LOVD ABCA4 - - - - 40 NM_000350.2:c.5693G>A - r.(?) p.(Arg1898His) - - - - - - - - - - - - - -
1 Unknown +/. - pathogenic g.94564350C>A g.94098794C>A ABCA4 c.768G>T, p.Val256Val - ABCA4_000045 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - LOVD ABCA4 - - - - 6 NM_000350.2:c.768G>T - r.spl p.[Val256=,Leu257Valfs*17] - - - - - - - - - - - - - -
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