Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 p.Val940GlyfsTer3 (p.V940Gfs*3)
(
ENST00000361150.6,
ENST00000361510.8,
ENST00000361715.6,
ENST00000361828.7,
ENST00000361908.8,
ENST00000392436.7,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 p.Val940GlyfsTer3 (p.V940Gfs*3) ( ENST00000361150.6, ENST00000361510.8, ENST00000361715.6, ENST00000361828.7, ENST00000361908.8, ENST00000392436.7, ENST00000392437.6, ENST00000643329.1, ENST00000645553.1, ENST00000646793.1 ) - Associated Disease
- Autosomal dominant optic atrophy classic form Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy Glaucoma, normal tension, susceptibility to Abortive cerebellar ataxia Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
- Source Database
- ClinVar
- Description
- NM_130837.3(OPA1):c.2873_2876del AND multiple conditions
- ClinVar Allele ID
- 20121
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.2873_2876del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002490322
- ClinVar Disease
- Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
- ClinVar Disease
- Glaucoma, normal tension, susceptibility to
- ClinVar Disease
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- ClinVar Disease
- Autosomal dominant optic atrophy classic form
- ClinVar Disease
- Abortive cerebellar ataxia
- Observed Origin Sample
- unknown
Drugs