Annotation Detail
Information
- Associated Genes
- CELSR2
- Associated Variants
-
CELSR2 c.8055-10A>G
(
ENST00000271332.4 )
CELSR2 c.8055-10A>G ( ENST00000271332.4 ) - Associated Disease
- CELSR2-related disorder
- Source Database
- ClinVar
- Description
- NM_001408.3(CELSR2):c.8055-10A>G AND CELSR2-related disorder
- ClinVar Allele ID
- 1635116
- ClinVar RefSeq Alternation Syntax
- NM_001408.3:c.8055-10A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003978479
- ClinVar Disease
- CELSR2-related disorder
- Observed Origin Sample
- germline
Drugs