Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 p.Ter998= (p.*998=)
(
ENST00000361150.6,
ENST00000361510.8,
ENST00000361715.6,
ENST00000361828.7,
ENST00000361908.8,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 p.Ter998= (p.*998=) ( ENST00000361150.6, ENST00000361510.8, ENST00000361715.6, ENST00000361828.7, ENST00000361908.8, ENST00000392437.6, ENST00000643329.1, ENST00000645553.1, ENST00000646793.1 ) - Associated Disease
- OPA1-related disorder
- Source Database
- ClinVar
- Description
- NM_130837.3(OPA1):c.3048A>G (p.Ter1016=) AND OPA1-related disorder
- ClinVar Allele ID
- 1655769
- ClinVar RefSeq Alternation Syntax
- NM_130836.3:c.2994A>G
- ClinVar RefSeq Alternation Syntax
- NM_130834.3:c.2937A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354664.2:c.2511A>G
- ClinVar RefSeq Alternation Syntax
- NM_130832.3:c.2829A>G
- ClinVar RefSeq Alternation Syntax
- NM_130833.3:c.2886A>G
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.3048A>G
- ClinVar RefSeq Alternation Syntax
- NM_130835.3:c.2940A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354663.2:c.2514A>G
- ClinVar RefSeq Alternation Syntax
- NM_015560.3:c.2883A>G
- ClinVar RefSeq Alternation Syntax
- NM_130831.3:c.2775A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2019-08-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004533961
- ClinVar Disease
- OPA1-related disorder
- Observed Origin Sample
- germline
Drugs