Individual #00376761

ID_report 23
Reference PubMed: Wang 2014
Remarks -
Gender M
Consanguinity -
Country United States
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-06-25 14:31:53 +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     
0000271972 - retinitis pigmentosa - Familial, autosomal recessive 35y - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000377967 DNA SEQ-NG - 66-gene panel - 4 LOVD



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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.216538391C>T g.216365049C>T - - USH2A_000014 - PubMed: Wang 2014 - rs45500891 Germline - - - - - LOVD USH2A - - - - - NM_206933.2:c.688G>A - r.(?) p.(Val230Met) - - - - - - - - - - - - - -
2 Unknown ?/. - VUS g.29294528G>A g.29071662G>A - - C2orf71_000006 - PubMed: Wang 2014 - rs182248363 Germline - - - - - LOVD C2orf71 - - - - - NM_001029883.2:c.2600C>T - r.(?) p.(Pro867Leu) - - - - - - - - - - - - - -
4 Both (homozygous) +?/. - likely pathogenic g.656888G>C g.663099G>C - - PDE6B_000248 - PubMed: Wang 2014 - - Germline - - - - - LOVD PDE6B - - - - - NM_000283.3:c.1833-1G>C - r.spl p.? - - - - - - - - - - - - - -
12 Unknown ?/. - VUS g.88472996C>T g.88079219C>T - - CEP290_000189 - PubMed: Wang 2014 - rs61941020 Germline - - - - - LOVD CEP290 - - - - - NM_025114.3:c.5237G>A - r.(?) p.(Arg1746Gln) - - - - - - - - - - - - - -
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