Annotation Detail
Information
- Associated Genes
- EYS
- Associated Variants
-
EYS p.Glu584Ter (p.E584*)
(
ENST00000370621.7,
ENST00000342421.9,
ENST00000393380.6,
ENST00000503581.6 )
EYS p.Glu584Ter (p.E584*) ( ENST00000342421.9, ENST00000370621.7, ENST00000393380.6, ENST00000503581.6 ) - Associated Disease
- retinitis pigmentosa
- Source Database
- ClinVar
- Description
- NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) AND Retinitis pigmentosa
- ClinVar Allele ID
- 152819
- ClinVar RefSeq Alternation Syntax
- NM_001142801.2:c.1750G>T
- ClinVar RefSeq Alternation Syntax
- NM_001142800.2:c.1750G>T
- ClinVar RefSeq Alternation Syntax
- NM_001292009.2:c.1750G>T
- ClinVar RefSeq Alternation Syntax
- NM_198283.2:c.1750G>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000132622
- ClinVar Disease
- Retinitis pigmentosa
- Observed Origin Sample
- not provided
Drugs