MLH1 c.1464G>A ;(p.K488=)

Variant ID: 3-37070329-G-A

NM_000249.3(MLH1):c.1464G>A;(p.K488=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21

Variant appearance in text: MLH1: 1464G>A
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Microsatellite Instability and Altered Expressions of MLH1 and MSH2 in Gastric Cancer

Asian Pacific Journal Of Cancer Prevention : Apjcp
Haron, Nor Hasyimah NH; Mohamad Hanif, Ezanee Azlina EA; Abdul Manaf, Mohd Rizal MR; Yaakub, Jasmi Ali JA; Harun, Roslan R; Mohamed, Ramelah R; Mohamed Rose, Isa I
Publication Date: 2019-02-26

Variant appearance in text: MLH1: 1464G>A; Lys488Lys
PubMed Link: 30803214
Variant Present in the following documents:
  • Main text
  • APJCP-20-509.pdf
View BVdb publication page