Annotation Detail
Information
- Associated Genes
- VANGL1
- Associated Variants
-
VANGL1 c.*1277C>T
(
ENST00000369510.8,
ENST00000355485.7 )
VANGL1 c.*1277C>T ( ENST00000355485.7, ENST00000369510.8 ) - Associated Disease
- Sacral defect with anterior meningocele
- Source Database
- ClinVar
- Description
- NM_138959.3(VANGL1):c.*1277C>T AND Sacral defect with anterior meningocele
- ClinVar Allele ID
- 276364
- ClinVar RefSeq Alternation Syntax
- NM_138959.3:c.*1277C>T
- ClinVar RefSeq Alternation Syntax
- NM_001172411.2:c.*1277C>T
- ClinVar RefSeq Alternation Syntax
- NM_001172412.2:c.*1277C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000262291
- ClinVar Disease
- Sacral defect with anterior meningocele
- Observed Origin Sample
- germline
Drugs