Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 p.Ile419Met (p.I419M)
(
ENST00000361150.6,
ENST00000361510.8,
ENST00000361715.6,
ENST00000361828.7,
ENST00000361908.8,
ENST00000392436.7,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 p.Ile419Met (p.I419M) ( 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 Abortive cerebellar ataxia Autosomal dominant optic atrophy classic form
- Source Database
- ClinVar
- Description
- NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) AND multiple conditions
- ClinVar Allele ID
- 59852
- ClinVar RefSeq Alternation Syntax
- NM_130836.3:c.1257A>G
- ClinVar RefSeq Alternation Syntax
- NM_130834.3:c.1200A>G
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.1311A>G
- ClinVar RefSeq Alternation Syntax
- NM_130833.3:c.1149A>G
- ClinVar RefSeq Alternation Syntax
- NM_015560.3:c.1146A>G
- ClinVar RefSeq Alternation Syntax
- NM_130835.3:c.1203A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354663.2:c.777A>G
- ClinVar RefSeq Alternation Syntax
- NM_130832.3:c.1092A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354664.2:c.774A>G
- ClinVar RefSeq Alternation Syntax
- NM_130831.3:c.1038A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2017-09-20
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001249638
- ClinVar Disease
- Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
- ClinVar Disease
- Autosomal dominant optic atrophy classic form
- ClinVar Disease
- Abortive cerebellar ataxia
- Observed Origin Sample
- germline
Drugs