Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 p.Arg403Ter (p.R403*)
(
ENST00000361828.7,
ENST00000361150.6,
ENST00000361908.8,
ENST00000361510.8,
ENST00000361715.6,
ENST00000392436.7,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 p.Arg403Ter (p.R403*) ( 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
- Source Database
- ClinVar
- Description
- NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter) AND Autosomal dominant optic atrophy classic form
- ClinVar Allele ID
- 20124
- ClinVar RefSeq Alternation Syntax
- NM_130831.3:c.988C>T
- ClinVar RefSeq Alternation Syntax
- NM_130836.3:c.1207C>T
- ClinVar RefSeq Alternation Syntax
- NM_015560.3:c.1096C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354663.2:c.727C>T
- ClinVar RefSeq Alternation Syntax
- NM_130833.3:c.1099C>T
- ClinVar RefSeq Alternation Syntax
- NM_130832.3:c.1042C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354664.2:c.724C>T
- ClinVar RefSeq Alternation Syntax
- NM_130835.3:c.1153C>T
- ClinVar RefSeq Alternation Syntax
- NM_130834.3:c.1150C>T
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.1261C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005390
- ClinVar Disease
- Autosomal dominant optic atrophy classic form
- Observed Origin Sample
- germline
- Pubmed
- 11017080
Drugs