Individual #00414999

ID_report patient
Reference PubMed: Weisschuh 2020, PubMed: Weisschuh 2021, Journal: Weisschuh 2021
Remarks 2 generation family, 1 affected, unaffected parents/relatives
Gender M
Consanguinity -
Country Germany
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases OPA
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-08-05 17:24:11 +02:00 (CEST)
Date last edited 2022-08-05 17:26:46 +02:00 (CEST)


Phenotypes

atrophy, optic (OPA) (OPA)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Birth_Details     

MotorSkills     

Vision/Abnormality     

Hearing/Loss     

Eye/Optic_Disc     

Protein     

Eye/OCT     

Habits     

Brain/Imaging     

Vision/Acuity     

Vision/Colour     

Vision/Field     

Owner     
0000306800 see paper; ..., bilateral slowly progressive vision loss optic atrophy - Familial, autosomal dominant - - - - - - - - - - - - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000416280 DNA PCR;SEQ - WGS OPA1 1 Johan den Dunnen



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     
3 Unknown +/. - pathogenic (dominant) g.[193310511_193310604del;193310605_193311541inv;193311826_193312932del] g.[193592722_193592815del;193592816_193593752inv;193594037_193595143del] g.193310511_193312933delins193310603_193311825[193310603_193310540inv] inversion ex1 OPA1_000688 2.4 kb structural variant comprising a 937bp inversion of exon 1 and two flanking deletions PubMed: Weisschuh 2020, PubMed: Weisschuh 2021, Journal: Weisschuh 2021 - - Germline/De novo (untested) - - - - - Johan den Dunnen OPA1 - - - - 1 NM_015560.2:c.[-234_32+343{1};32+628_32+1734del] - r.0? p.0? - - - - - - - - - - - - - -
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