Annotation Detail
Information
- Associated Genes
- EYS
- Associated Variants
-
EYS p.Gly2186Glu (p.G2186E)
(
ENST00000370621.7,
ENST00000503581.6 )
EYS p.Gly2186Glu (p.G2186E) ( ENST00000370621.7, ENST00000503581.6 ) - Associated Disease
- retinitis pigmentosa
- Source Database
- ClinVar
- Description
- NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) AND Retinitis pigmentosa
- ClinVar Allele ID
- 152826
- ClinVar RefSeq Alternation Syntax
- NM_001142800.2:c.6557G>A
- ClinVar RefSeq Alternation Syntax
- NM_001292009.2:c.6557G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000132629
- ClinVar Disease
- Retinitis pigmentosa
- Observed Origin Sample
- not provided
Drugs