Individual #00405536

ID_report F17-1
Reference PubMed: Gao 2019
Remarks -
Gender F
Consanguinity -
Country China
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 2022-03-19 20:33:50 +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     
0000298059 - - autosomal recessive bestrophinopathy (ARB) Familial, autosomal recessive - - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000406776 DNA SEQ blood - BEST1 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     
11 Parent #1 +/. ACMG pathogenic g.61724418C>T g.61956946C>T BEST1 c.584C>T, p.(Ala195Val) - BEST1_000018 heterozygous PubMed: Gao 2019 - - Germline yes - - - - LOVD BEST1 - - - - 5 NM_004183.3:c.584C>T - r.(?) p.(Ala195Val) - - - - - - - - - - - - - -
11 Parent #2 +/. ACMG pathogenic g.61725666C>T g.61958194C>T BEST1 c.763C>T, p.(Arg255Trp) - BEST1_000063 heterozygous PubMed: Gao 2019 - - Germline yes - - - - LOVD BEST1 - - - - 7 NM_004183.3:c.763C>T - r.(?) p.(Arg255Trp) - - - - - - - - - - - - - -
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