Variant Summary
- Also known as
- ASP473HIS
- HGVS
- NM_005631.4:c.1417G>A,NP_005622.1:p.Asp473His,ENST00000249373.3:c.1417G>A,NC_000007.13:g.128849189G>C
- Variant Type(s)
- missense_variant
- Evidence Items
- 3
Evidence Level Distribution
Level C: 1Level D: 2
Evidence Items
Showing CIViC evidence rows where gene = SMO and variant = D473H.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Predictive | Supports | Sensitivity/Response | Medulloblastoma | Patidegib | 3 |
| C | Predictive | Supports | Resistance | Medulloblastoma | Vismodegib | 3 |
| D | Predictive | Supports | Resistance | Basal Cell Carcinoma | Vismodegib | 3 |