Individual #00180918

ID_report III.4
Reference PubMed: Biamino 2016
Remarks -
Gender F
Consanguinity no
Country ? (unknown)
Population -
Age at death 39y (39 years)
VIP 0
Data_av -
Treatment -
Panel ID 00180915
Panel size 1
Diseases OPA
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau


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     
0000143181 Behavioral abnormality (HP:0000708), Obesity (HP:0001513) optic atrophy OPA-1 Familial, autosomal dominant - - - - - - nr - nr - - - - - - - - - Thomas Foulonneau



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000181856 DNA arrayCGH Peripheral blood - OPA1 1 Thomas Foulonneau



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     

Codon change     

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/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 Unknown +/+? - pathogenic g.(192000000_193046853)_(194407385_195000000)del - 193046853_194407385del - OPA1_000431 1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1 PubMed: Biamino 2016 - - Germline - - - 0 - Thomas Foulonneau OPA1 - - - - - _1_29_, _1_31_ NM_015560.2:c.0, NM_130837.2:c.0 - r.0 p.0 - - - - - - - - - - - - - - - - - - -
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