Variant Summary
- Also known as
- RS121913482,ARG248CYS
- HGVS
- NC_000004.11:g.1803564C>T,NM_000142.4:c.742C>T,NP_000133.1:p.Arg248Cys,ENST00000340107.4:c.742C>T
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level D: 2
Evidence Items
Showing CIViC evidence rows where gene = FGFR3 and variant = R248C.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Functional | Supports | Gain of Function | 5 | ||
| D | Predictive | Does Not Support | Resistance | Cancer | R3Mab | 3 |