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: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Source Database: ClinVar
Description: NM_130837.3(OPA1):c.1499G>A (p.Arg500His) AND Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
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: 2008-11-25
Clinical Significance Review Status: no assertion criteria provided
URL: https://www.ncbi.nlm.nih.gov/clinvar/RCV000005396
ClinVar Disease: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Observed Origin Sample: germline
Observed Origin Sample: unknown
Pubmed: 16240368
Pubmed: 18158317
Pubmed: 16158427
Pubmed: 15531309
Pubmed: 19029523
Pubmed: 4058877
Pubmed: 6493699
Pubmed: 12566046
Pubmed: 31609081
Pubmed: 14644237

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