Variant Summary
- Also known as
- C.344DELA,HIS115FS,RS1553619937,HIS115PROFSTER44 (C.344DEL),H115FS (C.344DELA),H115PFS*44 (C.344DEL)
- HGVS
- NC_000003.11:g.10188201del,NM_000551.3:c.344delA,ENST00000256474.2:c.344del,NP_000542.1:p.His115ProfsTer44
- Variant Type(s)
- frameshift_truncation,minus_1_frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = H115fs (c.344del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |