Variant Summary
- Also known as
- ALA391GLU,ALA393GLU,A393E
- HGVS
- NC_000004.12:g.1804426C>A,NC_000004.11:g.1806153C>A,ENST00000440486.8:c.1172C>A,NM_000142.5:c.1172C>A,ENSP00000414914.2:p.Ala391Glu,NP_000133.1:p.Ala391Glu
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level D: 1
Evidence Items
Showing CIViC evidence rows where gene = FGFR3 and variant = A391E.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Functional | Supports | Gain of Function | 4 |