MLH1 c.1929_1938del ;(p.I643Mfs*15)

Variant ID: 3-37090037-GATTGACAACT-G

NM_000249.3(MLH1):c.1929_1938del;(p.I643Mfs*15)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Cancer Biology & Medicine
Li, Yan Y; Fan, Lihong L; Zheng, Jianming J; Nie, Xiu X; Sun, Yu Y; Feng, Qin Q; Lian, Shenyi S; Bai, Wenqi W; Cai, Weijing W; Yang, Yanan Y; Su, Bo B; Xi, Yanfeng Y; Lin, Dongmei D
Publication Date: 2022-06-01

Variant appearance in text: MLH1: 1929_1938delTGACAACTAT; I643Mfs*15
PubMed Link: 35638907
Variant Present in the following documents:
  • Main text
  • cbm-19-1235.pdf
  • cbm-19-1235-s001.pdf
View BVdb publication page



Two novel and one known pathogenic germline mutations in MMRs in Chinese families with Lynch syndrome.

Genes & Diseases
Li, Juyi J; Zhu, Lin L; Li, Yuanyuan Y; Huang, Hui H; Huang, Kaiyu K; Deng, Aiping A
Publication Date: 2022-03

Variant appearance in text: MLH1: 1927_1936del; I643fs
PubMed Link: 35224146
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page