Annotation Detail
Information
- Associated Genes
- EFNB1
- Associated Variants
-
EFNB1 p.Trp37Ter (p.W37*)
(
ENST00000204961.5 )
EFNB1 p.Trp37Ter (p.W37*) ( ENST00000204961.5 ) - Associated Disease
- craniofrontonasal syndrome
- Source Database
- ClinVar
- Description
- NM_004429.5(EFNB1):c.110G>A (p.Trp37Ter) AND Craniofrontonasal syndrome
- ClinVar Allele ID
- 26753
- ClinVar RefSeq Alternation Syntax
- NM_004429.5:c.110G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012480
- ClinVar Disease
- Craniofrontonasal syndrome
- Observed Origin Sample
- germline
- Pubmed
- 16685650
Drugs