Annotation Detail
Information
- Associated Genes
- SMO
- Associated Variants
-
SMO p.Asp473His (p.D473H)
(
ENST00000249373.8 )
SMO p.Asp473His (p.D473H) ( ENST00000249373.8 ) - Associated Disease
- medulloblastoma
- Source Database
- ClinVar
- Description
- NM_005631.5(SMO):c.1417G>C (p.Asp473His) AND Medulloblastoma
- ClinVar Allele ID
- 362817
- ClinVar RefSeq Alternation Syntax
- NM_005631.5:c.1417G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-10-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000431122
- ClinVar Disease
- Medulloblastoma
- Observed Origin Sample
- somatic
Drugs