Annotation Detail
Information
- Associated Genes
- EYS
- Associated Variants
-
EYS p.Leu2671Ter (p.L2671*)
(
ENST00000370621.7,
ENST00000503581.6 )
EYS p.Leu2671Ter (p.L2671*) ( ENST00000370621.7, ENST00000503581.6 ) - Associated Disease
- Retinal dystrophy
- Source Database
- ClinVar
- Description
- NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) AND Retinal dystrophy
- ClinVar Allele ID
- 152831
- ClinVar RefSeq Alternation Syntax
- NM_001142800.2:c.8012T>A
- ClinVar RefSeq Alternation Syntax
- NM_001292009.2:c.8012T>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003888557
- ClinVar Disease
- Retinal dystrophy
- Observed Origin Sample
- germline
Drugs