Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 p.Val947Asp (p.V947D)
(
ENST00000361150.6,
ENST00000361510.8,
ENST00000361715.6,
ENST00000361828.7,
ENST00000361908.8,
ENST00000392436.7,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 p.Val947Asp (p.V947D) ( ENST00000361150.6, ENST00000361510.8, ENST00000361715.6, ENST00000361828.7, ENST00000361908.8, ENST00000392436.7, ENST00000392437.6, ENST00000643329.1, ENST00000645553.1, ENST00000646793.1 ) - Associated Disease
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- Source Database
- ClinVar
- Description
- NM_130837.3(OPA1):c.2894T>A (p.Val965Asp) AND Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- ClinVar Allele ID
- 39420
- ClinVar RefSeq Alternation Syntax
- NM_130832.3:c.2675T>A
- ClinVar RefSeq Alternation Syntax
- NM_130833.3:c.2732T>A
- ClinVar RefSeq Alternation Syntax
- NM_015560.3:c.2729T>A
- ClinVar RefSeq Alternation Syntax
- NM_130834.3:c.2783T>A
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.2894T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354663.2:c.2360T>A
- ClinVar RefSeq Alternation Syntax
- NM_130836.3:c.2840T>A
- ClinVar RefSeq Alternation Syntax
- NM_001354664.2:c.2357T>A
- ClinVar RefSeq Alternation Syntax
- NM_130835.3:c.2786T>A
- ClinVar RefSeq Alternation Syntax
- NM_130831.3:c.2621T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000023417
- ClinVar Disease
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- Observed Origin Sample
- germline
- Pubmed
- 18158317
Drugs