Annotation Detail
Information
- Associated Genes
- EPG5
- Associated Variants
-
EPG5 p.Arg1161Ter (p.R1161*)
(
ENST00000282041.11,
ENST00000696483.1,
ENST00000696484.1,
ENST00000696489.1,
ENST00000696490.1 )
EPG5 p.Arg1161Ter (p.R1161*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 ) - Associated Disease
- EPG5-related disorder
- Source Database
- ClinVar
- Description
- NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) AND EPG5-related disorder
- ClinVar Allele ID
- 48502
- ClinVar RefSeq Alternation Syntax
- NM_020964.3:c.3481C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-02
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003952387
- ClinVar Disease
- EPG5-related disorder
- Observed Origin Sample
- germline
Drugs