Individual #00404083

ID_report -
Reference Patrizia AMATI-BONNEAU and Pascal REYNIER, Angers (France), 2022-08-30
Remarks -
Gender M
Consanguinity -
Country (France)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases neuropathy, optic
Owner name Marc Ferre
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Marc Ferre
Date created 2022-02-26 14:27:07 +01:00 (CET)
Date last edited 2022-02-27 07:47:13 +01:00 (CET)


Phenotypes

neuropathy, optic (neuropathy, optic)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000296675 Optic atrophy (HP:0000648); Optic disc pallor (HP:0000543); Reduced visual acuity (HP:0007663); Abnormality of the basal ganglia (HP:0002134) - - Unknown 11y - 10y - - Marc Ferre



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000405320 DNA SEQ-NG - - OPA1 1 Marc Ferre



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     

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Reference     

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dbSNP ID     

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VIP     

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Owner     

Gene     

IDbase Accession Number     

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Exon     

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RNA change     

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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 Parent #1 +/. - likely pathogenic (dominant) g.193332570C>T - - - OPA1_000438 - - - - Germline/De novo (untested) ? - - - - Marc Ferre OPA1 - - - - - NM_015560.2:c.91C>T, NM_130837.2:c.91C>T - r.(?) p.(Gln31*) - - - - - - - - - - - - - -
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