MLH1 c.588+1G>A

Variant ID: 3-37053354-G-A

NM_000249.3(MLH1):c.588+1G>A

This variant was identified in 2 publications

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: 588+1G>A
PubMed Link: 31857677
Variant Present in the following documents:
  • Main text
  • nihms-1541744.pdf
View BVdb publication page



Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age

Balkan Medical Journal
Özdemir, Taha Reşid TR; Alan, Murat M; Sancı, Muzaffer M; Koç, Altuğ A
Publication Date: 2019-01-01

Variant appearance in text: MLH1: 588+1G>A
PubMed Link: 30238922
Variant Present in the following documents:
  • Main text
  • BMJ-36-37.pdf
View BVdb publication page