Annotation Detail
Information
- Associated Genes
- EYS
- Associated Variants
-
EYS p.Gly2186Ala (p.G2186A)
(
ENST00000370621.7,
ENST00000503581.6 )
EYS p.Gly2186Ala (p.G2186A) ( ENST00000370621.7, ENST00000503581.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001142800.2(EYS):c.6557G>C (p.Gly2186Ala) AND not provided
- ClinVar Allele ID
- 1968278
- ClinVar RefSeq Alternation Syntax
- NM_001292009.2:c.6557G>C
- ClinVar RefSeq Alternation Syntax
- NM_001142800.2:c.6557G>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-08-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002603841
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs