Individual #00105801

ID_report -
Reference Mavrogiannis LA, Charlton RS (unpublished)
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases OPA
Owner name Lampros Mavrogiannis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Lampros Mavrogiannis
Date created 2015-05-09 20:19:35 +02:00 (CEST)
Date last edited 2018-06-06 14:42:57 +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     
0000083697 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - Lampros Mavrogiannis



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106272 DNA MLPA - - OPA1 1 Lampros Mavrogiannis



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 +?/+? - likely pathogenic g.(193311199_193332511)_(193333560_193334966)del - 33-?_448+?del - OPA1_000349 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - - - Lampros Mavrogiannis OPA1 - - - - , 1i_3i NM_015560.2:c.(32+1_33-1)_(448+1_449-1)del, NM_130837.2:c.(32+1_33-1)_(448+1_449-1)del - r.spl p.? Basic (exons 1-3) - - - - - - - - - - - - -
Legend   How to query  


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