Individual #00409883

ID_report 201
Reference PubMed: Scholl 2015
Remarks M
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)
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 2022-05-13 13:40:26 +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     
0000301997 baseline visual acuity (ETDRS Letter Score) right/left eye: 64/51; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: 5.3/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 145/76; Goldmann visual field, response percent (defined as improvements in GVF retinal area 20% on at least 2 consecutive visits starting by Month 2) right/left eye:no/no - retinitis pigmentosa Familial, autosomal recessive 30y - - - - LOVD



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000411146 DNA ? - patients already genotyped for clinical trials RPE65 1 LOVD



Variants

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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     
4 Both (homozygous) +/. - pathogenic g.68903896A>G g.68438213A>G RPE65 c.1102T>C, p.Tyr368His - RPE65_000001 homozygous PubMed: Scholl 2015 - - Unknown ? - - - - LOVD RPE65 - - - - - NM_000329.2:c.1102T>C - r.(?) p.(Tyr368His) - - - - - - - - - - - - - -
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