Individual #00240094

ID_report -
Reference -
Remarks -
Gender M
Consanguinity no
Country (France)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases OPA, OPA-1
Owner name Marc Ferre


Phenotypes

atrophy, optic, type 1 (OPA-1) (OPA-1)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Vision/Acuity     

Vision/Colour     

Birth_Details     

Vision/Field     

Eye/Optic_Disc     

Eye/OCT     

Brain/Imaging     

MotorSkills     

Vision/Abnormality     

Vision/Other     

Hearing/Loss     

Protein     

Habits     

Histology     

Owner     
0000180249 Moderate optic atrophy appeared in childhood, father suffering the same way. No other neurological signs mentioned. - - Familial, autosomal dominant - 44y - - OD 0.4 LogMAR;OS 0.4 LogMAR - - - - - - - - - - - - - Marc Ferre



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000241198 DNA SEQ-NG-IT Blood - - 1 Marc Ferre



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

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Reference     

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IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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ClassClinical     

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P-domain     

Exon_old     

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Predicted     

Type/DNA     

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CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
3 Paternal (confirmed) +/+ g.193332611dup - - - OPA1_000542 - - - - Germline yes - - 0 - Marc Ferre OPA1 - - - - - 2 NM_015560.2:c.132dup, NM_130837.2:c.132dup - Pathogenie (dominant) r.(?) p.(His45Serfs*28) - - - - - - - - - - - - - - - - - - -
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