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
- Mitochondrial disease
- Source Database
- ClinVar
- Description
- NM_130837.3(OPA1):c.2873_2876del AND Mitochondrial disease
- ClinVar Allele ID
- 20121
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.2873_2876del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-04-07
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000508703
- ClinVar Disease
- Mitochondrial disease
- Observed Origin Sample
- germline
Drugs