Variant Summary
- Also known as
- C.214DELT,SER72FS,S72FS (C.214DELT)
- HGVS
- ENST00000256474.2:c.214delT,NC_000003.12:g.10142061del,NM_000551.4:c.214del,NP_000542.1:p.Ser72ProfsTer?,NC_000003.11:g.10183745del
- 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 = S72fs (c.214del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Von Hippel-Lindau Disease | 4 |