Individual #00105694

ID_report -
Reference Mavrogiannis LA, Prescott K, Charlton RS (unpublished)
Remarks -
Gender -
Consanguinity -
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases OPA
Owner name Lampros Mavrogiannis
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Lampros Mavrogiannis
Date created 2011-01-07 00:00:00 +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     
0000083590 autosomal dominant optic atrophy optic atrophy OPA-1 Familial - - - - - - - - - - - - - - - - Lampros Mavrogiannis



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106165 DNA MLPA Blood - OPA1 1 Lampros Mavrogiannis



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 +?/+? - likely pathogenic g.(193311199_193332511)_(193385070_193409851)dup - 33-?_2983+?dup - OPA1_000273 eOPA1 identifier (obsolete):OA_00287; Nucleotide change: Large duplication of exons 2-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 2 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Detected by MLP Mavrogiannis LA, Prescott K, Charlton RS (unpublished) - - Germline yes - - - - Lampros Mavrogiannis OPA1 - - - - , 1i_29i NM_015560.2:c.(32+1_33-1)_(2818+1_2819-1)dup, NM_130837.2:c.(32+1_33-1)_(2983+1_2984-1)dup - r.? p.? Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30) - - - - - - - - - - - - -
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