Annotation Detail
Information
- Associated Genes
- EFNB1
- Associated Variants
-
EFNB1 p.Pro54Leu (p.P54L)
(
ENST00000204961.5 )
EFNB1 p.Pro54Leu (p.P54L) ( ENST00000204961.5 ) - Associated Disease
- craniofrontonasal syndrome
- Source Database
- ClinVar
- Description
- NM_004429.5(EFNB1):c.161C>T (p.Pro54Leu) AND Craniofrontonasal syndrome
- ClinVar Allele ID
- 26747
- ClinVar RefSeq Alternation Syntax
- NM_004429.5:c.161C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-06-27
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000012474
- ClinVar Disease
- Craniofrontonasal syndrome
- Observed Origin Sample
- germline
- Pubmed
- 15124102
Drugs