Annotation Detail
Information
- Associated Genes
- EFNB1
- Associated Variants
-
EFNB1 p.Thr111Ile (p.T111I)
(
ENST00000204961.5 )
EFNB1 p.Thr111Ile (p.T111I) ( ENST00000204961.5 ) - Associated Disease
- craniofrontonasal syndrome
- Source Database
- ClinVar
- Description
- NM_004429.5(EFNB1):c.332C>T (p.Thr111Ile) AND Craniofrontonasal syndrome
- ClinVar Allele ID
- 26746
- ClinVar RefSeq Alternation Syntax
- NM_004429.5:c.332C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-06-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012473
- ClinVar Disease
- Craniofrontonasal syndrome
- Observed Origin Sample
- germline
- Pubmed
- 15124102
Drugs