Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 p.Arg980GlufsTer25 (p.R980Efs*25)
(
ENST00000361150.6,
ENST00000361510.8,
ENST00000361715.6,
ENST00000361828.7,
ENST00000361908.8,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 p.Arg980GlufsTer25 (p.R980Efs*25) ( ENST00000361150.6, ENST00000361510.8, ENST00000361715.6, ENST00000361828.7, ENST00000361908.8, ENST00000392437.6, ENST00000643329.1, ENST00000645553.1, ENST00000646793.1 ) - Associated Disease
- Autosomal dominant optic atrophy classic form
- Source Database
- ClinVar
- Description
- NM_130837.3(OPA1):c.2991del (p.Arg998fs) AND Autosomal dominant optic atrophy classic form
- ClinVar Allele ID
- 20127
- ClinVar RefSeq Alternation Syntax
- NM_130834.3:c.2880del
- ClinVar RefSeq Alternation Syntax
- NM_130832.3:c.2772del
- ClinVar RefSeq Alternation Syntax
- NM_001354663.2:c.2457del
- ClinVar RefSeq Alternation Syntax
- NM_130835.3:c.2883del
- ClinVar RefSeq Alternation Syntax
- NM_130831.3:c.2718del
- ClinVar RefSeq Alternation Syntax
- NM_015560.3:c.2826del
- ClinVar RefSeq Alternation Syntax
- NM_001354664.2:c.2454del
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.2991del
- ClinVar RefSeq Alternation Syntax
- NM_130833.3:c.2829del
- ClinVar RefSeq Alternation Syntax
- NM_130836.3:c.2937del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2001-11-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005393
- ClinVar Disease
- Autosomal dominant optic atrophy classic form
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 11735024
Drugs