Annotation Detail
Information
- Associated Genes
- EYS
- Associated Variants
-
EYS p.Cys2350AlafsTer97 (p.C2350Afs*97)
(
ENST00000503581.6,
ENST00000370621.7 )
EYS p.Cys2350AlafsTer97 (p.C2350Afs*97) ( ENST00000370621.7, ENST00000503581.6 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001142800.2(EYS):c.7048del (p.Cys2350fs) AND not provided
- ClinVar Allele ID
- 152827
- ClinVar RefSeq Alternation Syntax
- NM_001142800.2:c.7048del
- ClinVar RefSeq Alternation Syntax
- NM_001292009.2:c.7048del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003556176
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs