MLH1 c.2005G>A ;(p.E669K)

Variant ID: 3-37090410-G-A

NM_000249.3(MLH1):c.2005G>A;(p.E669K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Hechtman, Jaclyn F JF; Rana, Satshil S; Middha, Sumit S; Stadler, Zsofia K ZK; Latham, Alicia A; Benayed, Ryma R; Soslow, Robert R; Ladanyi, Marc M; Yaeger, Rona R; Zehir, Ahmet A; Shia, Jinru J
Publication Date: 2020-05

Variant appearance in text: MLH1: 2005G>A; E669K
PubMed Link: 31857677
Variant Present in the following documents:
  • Main text
  • nihms-1541744.pdf
View BVdb publication page