Variant Summary
- Also known as
- LYS650LEU
- HGVS
- NC_000004.12:g.1806162_1806163delinsCT,NC_000004.11:g.1807889_1807890delinsCT,ENST00000440486.8:c.1948_1949delinsCT,ENSP00000414914.2:p.Lys650Leu,NM_000142.5:c.1948_1949delinsCT,NP_000133.1:p.Lys650Leu
- Variant Type(s)
- —
- Evidence Items
- 1
Evidence Level Distribution
Level D: 1
Evidence Items
Showing CIViC evidence rows where gene = FGFR3 and variant = K650L.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Functional | Supports | Gain of Function | 2 |