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MLH1 c.657C>G ;(p.I219M)
Variant ID: 3-37053570-C-G
NM_000249.3(
MLH1
):c.657C>G;(p.I219M)
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: I219M
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
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
International Journal Of Molecular Sciences
Caja, Fabian F; Vodickova, Ludmila L; Kral, Jan J; Vymetalkova, Veronika V; Naccarati, Alessio A; Vodicka, Pavel P
Publication Date: 2020-08-03
Variant appearance in text: MLH1: Ile219Met
PubMed Link:
32756484
Variant Present in the following documents:
Main text
ijms-21-05561.pdf
View BVdb publication page