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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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