Individual #00262085

ID_report Patient 3
Reference PubMed: Zhang 2019
Remarks 2-generation family, affected mother/son
Gender M
Consanguinity no
Country China
Population -
Age at death ?
VIP -
Data_av -
Treatment -
Panel size 1
Diseases EVR
Owner name Dimitra Ilektra Lerou
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Dimitra Ilektra Lerou
Date created 2019-08-17 14:40:54 +02:00 (CEST)
Date last edited 2019-08-21 14:38:19 +02:00 (CEST)


Phenotypes

vitreoretinopathy, exudative (EVR; familial FVER)) (EVR;FEVR)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000200568 - Norrie-like retinopathy Familial Exudative Vitreoretinopathy Familial ? ? ? - - Dimitra Ilektra Lerou



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000263191 DNA SEQ blood whole genome sequencing - 1 Dimitra Ilektra Lerou



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     
20 Unknown +/. - pathogenic g.10622140T>C g.10641492T>C - - JAG1_000488 - PubMed: Zhang 2019 - - Germline - 21/246,190 - - - Dimitra Ilektra Lerou JAG1 - - - - - NM_000214.2:c.2884A>G - r.(?) p.(Thr962Ala) - - - - - - - - - - - - - -
Legend   How to query  


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