Annotation Detail
Information
- Associated Genes
- EYS
- Associated Variants
-
EYS p.Glu584Lys (p.E584K)
(
ENST00000342421.9,
ENST00000370621.7,
ENST00000393380.6,
ENST00000503581.6 )
EYS p.Glu584Lys (p.E584K) ( ENST00000342421.9, ENST00000370621.7, ENST00000393380.6, ENST00000503581.6 ) - Associated Disease
- retinitis pigmentosa 25
- Source Database
- ClinVar
- Description
- NM_001142800.2(EYS):c.1750G>A (p.Glu584Lys) AND Retinitis pigmentosa 25
- ClinVar Allele ID
- 1027364
- ClinVar RefSeq Alternation Syntax
- NM_198283.2:c.1750G>A
- ClinVar RefSeq Alternation Syntax
- NM_001142801.2:c.1750G>A
- ClinVar RefSeq Alternation Syntax
- NM_001292009.2:c.1750G>A
- ClinVar RefSeq Alternation Syntax
- NM_001142800.2:c.1750G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2020-10-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001831056
- ClinVar Disease
- Retinitis pigmentosa 25
- Observed Origin Sample
- germline
Drugs