Individual #00105743

ID_report -
Reference -
Remarks -
Gender M
Consanguinity -
Country France
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases OPA
Owner name Angelique Caignard
Database submission license No license selected
Created by Angelique Caignard
Date created 2014-01-20 09:45:52 +01:00 (CET)
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     
0000083639 autosomal dominant optic atrophy; clinical info spans <11y, ? clinical info relatives; visual handicap: stopped driving optic atrophy OPA-1 Unknown 34y - 31y-40y - - - loss normal OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse;OS diffuse - OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;cirrus - - OD 1.1 LogMAR;OS 1.2 LogMAR OD dyschromatopsia;OS dyschromatopsia OD Humphrey;OD -4.01 to -12;OD centrocecal;OS Humphrey;OS -12.01 to -20;OS undefined Angelique Caignard



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106214 DNA SEQ Blood - OPA1 1 Angelique Caignard



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 g.193332592_193332609del g.193614803_193614820del 112_139del18 - OPA1_000082 eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature PubMed: Thiselton 2002 - - Germline - - - - - Angelique Caignard OPA1 - - - - 2 NM_015560.2:c.113_130del, NM_130837.2:c.113_130del - r.(?) p.(Arg38_Ser43del) Basic (exons 1-3) - - - - - - - - - - - - -
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