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MLH1 c.928A>G ;(p.T310A)
Variant ID: 3-37061844-A-G
NM_000249.3(
MLH1
):c.928A>G;(p.T310A)
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:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: HNPCC2: T310A
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.
Frontiers In Genetics
Xu, Yun Y; Huang, Zonghao Z; Li, Cong C; Zhu, Congcong C; Zhang, Yuqin Y; Guo, Tian'an T; Liu, Fangqi F; Xu, Ye Y
Publication Date: 2020
Variant appearance in text: MLH1: Thr310Ala
PubMed Link:
32973888
Variant Present in the following documents:
Main text
fgene-11-00991.pdf
View BVdb publication page