Annotation Detail
Information
- Associated Genes
- OPA1
- Associated Variants
-
OPA1 p.Lys249ArgfsTer4 (p.K249Rfs*4)
(
ENST00000361150.6,
ENST00000361510.8,
ENST00000361715.6,
ENST00000361828.7,
ENST00000361908.8,
ENST00000392436.7,
ENST00000392437.6,
ENST00000643329.1,
ENST00000645553.1,
ENST00000646793.1 )
OPA1 p.Lys249ArgfsTer4 (p.K249Rfs*4) ( ENST00000361150.6, ENST00000361510.8, ENST00000361715.6, ENST00000361828.7, ENST00000361908.8, ENST00000392436.7, ENST00000392437.6, ENST00000643329.1, ENST00000645553.1, ENST00000646793.1 ) - Associated Disease
- Stargardt disease
- Source Database
- ClinVar
- Description
- NM_130837.3(OPA1):c.800_801del (p.Lys267fs) AND Stargardt disease
- ClinVar Allele ID
- 195380
- ClinVar RefSeq Alternation Syntax
- NM_130832.3:c.581_582del
- ClinVar RefSeq Alternation Syntax
- NM_130835.3:c.692_693del
- ClinVar RefSeq Alternation Syntax
- NM_130831.3:c.527_528del
- ClinVar RefSeq Alternation Syntax
- NM_015560.3:c.635_636del
- ClinVar RefSeq Alternation Syntax
- NM_130834.3:c.689_690del
- ClinVar RefSeq Alternation Syntax
- NM_001354663.2:c.266_267del
- ClinVar RefSeq Alternation Syntax
- NM_130837.3:c.800_801del
- ClinVar RefSeq Alternation Syntax
- NM_001354664.2:c.263_264del
- ClinVar RefSeq Alternation Syntax
- NM_130833.3:c.638_639del
- ClinVar RefSeq Alternation Syntax
- NM_130836.3:c.746_747del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-01-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003389462
- ClinVar Disease
- Stargardt disease
- Observed Origin Sample
- unknown
Drugs