Individual #00385457

ID_report 14000821
Reference PubMed: Lenassi 2020
Remarks retrospective analysis
Gender M
Consanguinity -
Country (United Kingdom (Great Britain))
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 2021-10-12 17:40:23 +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     
0000279252 - ectopia lentis et pupillae bilateral ectopia lentis (n=8) Familial, autosomal recessive - - 1y - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000386686 DNA SEQ-NG blood 114 genes panel tested ADAMTSL4 1 LOVD



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) +/. ACMG pathogenic g.150526234_150526253del g.150553758_150553777del ADAMTSL4 c.767_786del hom - ADAMTSL4_000001 no protein change mentioned in the publication; homozygous PubMed: Lenassi 2020 - - Germline ? - - - - LOVD ADAMTSL4 - - - - - NM_019032.4:c.767_786del - r.(?) p.(Gln256ProfsTer38) - - - - - - - - - - - - - -
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