Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 c.2607+1G>T
(
ENST00000361150.6,
ENST00000361510.8,
ENST00000361715.6,
ENST00000361828.7,
ENST00000361908.8,
ENST00000392436.7,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 c.2607+1G>T ( 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.2661+1G>T AND not provided
- ClinVar Allele ID
- 192992
- ClinVar RefSeq Alternation Syntax
- NM_130833.3:c.2499+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.2661+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354663.2:c.2127+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_001354664.2:c.2124+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_015560.3:c.2496+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_130831.3:c.2388+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_130834.3:c.2550+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_130836.3:c.2607+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_130832.3:c.2442+1G>T
- ClinVar RefSeq Alternation Syntax
- NM_130835.3:c.2553+1G>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2023-11-12
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000712464
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs