Individual #00299428

ID_report -
Reference -
Remarks -
Gender M
Consanguinity ?
Country (France)
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases OPA, OPA-1
Owner name Marc Ferre


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     

Vision/Other     

Hearing/Loss     

Eye/Optic_Disc     

Protein     

Eye/OCT     

Habits     

Histology     

Brain/Imaging     

Vision/Acuity     

Vision/Colour     

Vision/Field     

Owner     
0000226739 Autosomal Dominant Optic Atrophy, Classic Form (ORPHA:98673) - - Unknown 48y - - - - - - - - - - - - - - - - - Marc Ferre



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000300538 DNA SEQ-NG Blood - OPA1 1 Marc Ferre



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

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     
3 Parent #1 +?/+? - likely pathogenic (dominant) g.193311173C>T g.193593384C>T - - OPA1_000581 - - - - Germline/De novo (untested) ? - - 0 - Marc Ferre OPA1 - - - - - 1 NM_015560.2:c.7C>T, NM_130837.2:c.7C>T - r.(?) p.(Arg3*) - - - - - - - - - - - - - - - - - - - -
Legend   How to query