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MLH1 c.2170T>C ;(p.L724=)
Variant ID: 3-37092043-T-C
NM_000249.3(
MLH1
):c.2170T>C;(p.L724=)
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: rs63749875
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Familial Colorectal Cancer and Genetic Susceptibility: Colorectal Risk Variants in First-Degree Relatives of Patients With Colorectal Cancer.
Clinical And Translational Gastroenterology
Gargallo-Puyuelo, Carla J CJ; Lanas, Ángel Á; Carrera-Lasfuentes, Patricia P; Ferrández, Ángel Á; Quintero, Enrique E; Carrillo, Marta M; Alonso-Abreu, Inmaculada I; García-González, María Asunción MA
Publication Date: 2021-02-03
Variant appearance in text: MLH1: L724L
PubMed Link:
33534415
Variant Present in the following documents:
Main text
ct9-12-e00301.pdf
View BVdb publication page