Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 p.Arg482His (p.R482H)
(
ENST00000361510.8,
ENST00000361908.8,
ENST00000361828.7,
ENST00000361150.6,
ENST00000361715.6,
ENST00000392436.7,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 p.Arg482His (p.R482H) ( 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.1499G>A (p.Arg500His) AND not provided
- ClinVar Allele ID
- 20130
- ClinVar RefSeq Alternation Syntax
- NM_130831.3:c.1226G>A
- ClinVar RefSeq Alternation Syntax
- NM_130835.3:c.1391G>A
- ClinVar RefSeq Alternation Syntax
- NM_130836.3:c.1445G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354664.2:c.962G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354663.2:c.965G>A
- ClinVar RefSeq Alternation Syntax
- NM_015560.3:c.1334G>A
- ClinVar RefSeq Alternation Syntax
- NM_130832.3:c.1280G>A
- ClinVar RefSeq Alternation Syntax
- NM_130833.3:c.1337G>A
- ClinVar RefSeq Alternation Syntax
- NM_130834.3:c.1388G>A
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.1499G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-04-16
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000081749
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs