Annotation Detail
Information
- Associated Genes
- EPG5
- Associated Variants
-
EPG5 p.Arg2078Ter (p.R2078*)
(
ENST00000282041.11,
ENST00000696483.1,
ENST00000696484.1,
ENST00000696489.1,
ENST00000696490.1 )
EPG5 p.Arg2078Ter (p.R2078*) ( ENST00000282041.11, ENST00000696483.1, ENST00000696484.1, ENST00000696489.1, ENST00000696490.1 ) - Associated Disease
- Vici syndrome
- Source Database
- ClinVar
- Description
- NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) AND Vici syndrome
- ClinVar Allele ID
- 48504
- ClinVar RefSeq Alternation Syntax
- NM_020964.3:c.6232C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-13
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000033118
- ClinVar Disease
- Vici syndrome
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 23222957
Drugs