Individual #00105773

ID_report -
Reference Mavrogiannis LA, Charlton RS (unpublished)
Remarks -
Gender -
Consanguinity -
Country -
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases OPA
Owner name Lampros Mavrogiannis
Database submission license No license selected
Created by Lampros Mavrogiannis


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     
0000083669 autosomal dominant optic atrophy optic atrophy OPA-1 Unknown - - - - - - - - - - - - - - - - - - Lampros Mavrogiannis



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000106244 DNA SEQ - - OPA1 3 Lampros Mavrogiannis



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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 -?/? - likely benign g.193332522C>A g.193614733C>A - - OPA1_000318 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis OPA1 - - - - - 2 NM_015560.2:c.43C>A, NM_130837.2:c.43C>A - r.(?) p.(Gln15Lys) Basic (exons 1-3) - - - - - - - - - - - - - - - - - -
3 Unknown -?/-? - likely benign g.193332800G>A g.193615011G>A - - OPA1_000041 eOPA1 identifier (obsolete):OA_00044; Nucleotide change: G to A at 321 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature - - - Germline - - - 0 - Lampros Mavrogiannis OPA1 - - - - - 2 NM_015560.2:c.321G>A, NM_130837.2:c.321G>A - r.(?) p.(=) Basic (exons 1-3) - - - - - - - - - - - - - - - - - -
3 Parent #1 -?/? - likely benign g.193361198A>C g.193643409A>C - - OPA1_000319 - Mavrogiannis LA, Charlton RS (unpublished) - - Germline - - - 0 - Lampros Mavrogiannis OPA1 - - - - - 14 NM_015560.2:c.1177A>C, NM_130837.2:c.1342A>C - r.(?) p.(=) GTPase (exons 10-17) - - - - - - - - - - - - - - - - - -
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