Variant Summary
- Also known as
- 165INSA,C.164_165INSA
- HGVS
- NP_000542.1:p.Ala56fs,NP_000542.1:p.Ala56GlyfsTer74,NM_000551.2:c.164_165insA,NC_000003.11:g.10183695_10183696insA,NC_000003.11:g.10183695dupA,NC_000003.12:g.10142011dup
- Variant Type(s)
- frameshift_truncation
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = A56fs (c.164_165insA).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |