Please note that the OPA1 database opa1.mitodyn.org has migrated to the LOVD v3.0 platform and moved to the central LOVD servers databases.lovd.nl/shared/genes/OPA1.
Please use now: https://databases.lovd.nl/shared/genes/OPA1
LOVD - Variant listings for OPA1

About this overview [Show]

Patient data (#0000544)
Gender -
Disease ADOA
Age of onset -
Age at last examination -
Duration of disease -
Affected relatives -
Additional features -
Visual acuity -
Evolution of vision loss -
Optic disc -
Cupping -
Color vision -
Visual field -
OCT -
Visual handicap -
Hearing loss -
Pure tone audiometry -
Auditory brainstem responses -
Otoacoustic emission -
Functional disability -
Clinical score -
Electroneuromyography -
Histology -
Brain imaging -
Habits -
Geographic origin -
Reference Mavrogiannis LA, Charlton RS (unpublished), United Kingdom (Great Britain):Leeds
Remarks -
# Reported 1
Submitter Lampros Mavrogiannis

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID OPA1_00323
DNA change (cDNA) c.357del   (View in UCSC Genome Browser, Ensembl)
Type Deletion
Location Exon
Exon 3
Affected domain Basic (exons 1-3)
RNA change -
Protein p.(Phe119fs)
Reference Mavrogiannis LA, Charlton RS (unpublished)
Technique SEQ
Template DNA
Tissue -
Re-site -
DNA change/variant 1 NM_015560.2:c.357del
Exon/variant 1 3
Protein/isoform 1 NP_056375.2:p.(Phe119fs)
DNA published -
Variant remarks -
Frequency -

1 entry in OPA1

Path.
Allele Descending
Ascending
DB-ID Descending
Ascending
DNA change (cDNA) Descending
Ascending
Type Descending
Ascending
Location Descending
Ascending
Exon Descending
Ascending
Affected domain Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Reference Descending
Ascending
Technique Descending
Ascending
Template Descending
Ascending
Tissue Descending
Ascending
Re-site Descending
Ascending
DNA change/variant 1 Descending
Ascending
Exon/variant 1 Descending
Ascending
Protein/isoform 1 Descending
Ascending
DNA published Descending
Ascending
Variant remarks Descending
Ascending
Frequency Descending
Ascending
+/? Unknown OPA1_00323 c.357del Deletion Exon 3 Basic (exons 1-3) - p.(Phe119fs) Mavrogiannis LA, Charlton RS (unpublished) SEQ DNA - - NM_015560.2:c.357del 3 NP_056375.2:p.(Phe119fs) - - -