Annotation Detail
Information
- Associated Genes
- OPA1 LOC126806913
- Associated Variants
-
OPA1 p.Ser582Arg (p.S582R)
(
ENST00000361828.7,
ENST00000361150.6,
ENST00000361715.6,
ENST00000361908.8,
ENST00000361510.8,
ENST00000392436.7,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 p.Ser582Arg (p.S582R) ( 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.1800C>A (p.Ser600Arg) AND not provided
- ClinVar Allele ID
- 101609
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.1800C>A
- ClinVar RefSeq Alternation Syntax
- NM_130833.3:c.1638C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354664.2:c.1263C>A
- ClinVar RefSeq Alternation Syntax
- NM_130836.3:c.1746C>A
- ClinVar RefSeq Alternation Syntax
- NM_130834.3:c.1689C>A
- ClinVar RefSeq Alternation Syntax
- NM_130835.3:c.1692C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354663.2:c.1266C>A
- ClinVar RefSeq Alternation Syntax
- NM_130832.3:c.1581C>A
- ClinVar RefSeq Alternation Syntax
- NM_015560.3:c.1635C>A
- ClinVar RefSeq Alternation Syntax
- NM_130831.3:c.1527C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2012-12-28
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000175211
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs