Annotation Detail
Information
- Associated Genes
- EFNB1
- Associated Variants
-
EFNB1 p.Arg66Ter (p.R66*)
(
ENST00000204961.5 )
EFNB1 p.Arg66Ter (p.R66*) ( ENST00000204961.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter) AND not provided
- ClinVar Allele ID
- 26754
- ClinVar RefSeq Alternation Syntax
- NM_004429.5:c.196C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-10-11
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000224877
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs