Variant Summary
- Also known as
- ALA681VAL,A440V,RS63750864
- HGVS
- NM_000249.3:c.2042C>T,NP_000240.1:p.Ala681Val,ENST00000231790.2:c.2042C>T,NC_000003.11:g.37090447C>T
- Variant Type(s)
- missense_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = MLH1 and variant = A681V.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Oncogenic | Supports | Oncogenicity | Colorectal Cancer | 1 |