Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 p.Lys365Arg (p.K365R)
(
ENST00000361150.6,
ENST00000361510.8,
ENST00000361715.6,
ENST00000361828.7,
ENST00000361908.8,
ENST00000392436.7,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 p.Lys365Arg (p.K365R) ( ENST00000361150.6, ENST00000361510.8, ENST00000361715.6, ENST00000361828.7, ENST00000361908.8, ENST00000392436.7, ENST00000392437.6, ENST00000643329.1, ENST00000645553.1, ENST00000646793.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) AND not provided
- ClinVar Allele ID
- 101630
- ClinVar RefSeq Alternation Syntax
- NM_001354663.2:c.614A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354664.2:c.611A>G
- ClinVar RefSeq Alternation Syntax
- NM_130833.3:c.986A>G
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.1148A>G
- ClinVar RefSeq Alternation Syntax
- NM_130832.3:c.929A>G
- ClinVar RefSeq Alternation Syntax
- NM_130831.3:c.875A>G
- ClinVar RefSeq Alternation Syntax
- NM_015560.3:c.983A>G
- ClinVar RefSeq Alternation Syntax
- NM_130834.3:c.1037A>G
- ClinVar RefSeq Alternation Syntax
- NM_130835.3:c.1040A>G
- ClinVar RefSeq Alternation Syntax
- NM_130836.3:c.1094A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-04
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000081775
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs