Variant Summary
- Also known as
- LYS650GLN,LYS652GLN,LYS538GLN,LYS651GLN,K652Q,K538Q,K651Q
- HGVS
- NC_000004.12:g.1806162A>C,NC_000004.11:g.1807889A>C,ENST00000440486.8:c.1948A>C,NM_000142.5:c.1948A>C,ENSP00000414914.2:p.Lys650Gln ,NP_000133.1:p.Lys650Gln
- 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 = K650Q.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Functional | Supports | Gain of Function | 2 | ||
| D | Functional | Supports | Gain of Function | 2 |