Individual #00325502

ID_report 3751
Reference PubMed: Zenteno 2020
Remarks single patient
Gender -
Consanguinity -
Country Mexico
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

retinal disease (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     
0000243989 retinitis pigmentosa retinal disease - Familial, autosomal recessive - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000326713 DNA SEQ;SEQ-NG - 199 gene panel RPE65 2 Johan den Dunnen



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/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
1 Parent #1 +/. - pathogenic g.68912507C>T g.68446824C>T - - RPE65_000036 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - 0 - Johan den Dunnen RPE65 - - - - - NM_000329.2:c.131G>A - r.(?) p.(Arg44Gln) - - - - - - - - - - - - - - - - - - -
1 Parent #2 +/. ACMG pathogenic g.68914341del g.68448658del 61delG - RPE65_000192 ACMG PVS1, PM2, PM3, PP2, PP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - 0 - Johan den Dunnen RPE65 - - - - - NM_000329.2:c.61del - r.(?) p.(Glu21Asnfs*10) - - - - - - - - - - - - - - - - - - -
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