Variant Summary
- Also known as
- C.313A>C,THR105PRO,RS1553619461
- HGVS
- ENST00000256474.2:c.313A>C,NC_000003.11:g.10183844A>C,NM_000551.3:c.313A>C,NP_000542.1:p.Thr105Pro
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = T105P (c.313A>C).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 2 |