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MLH1 c.1172A>G ;(p.Q391R)
Variant ID: 3-37067261-A-G
NM_000249.3(
MLH1
):c.1172A>G;(p.Q391R)
This variant was identified in 3 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: MLH1: 1172A>G; Gln391Arg; rs587782884
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
An integrated DNA and RNA variant detector identifies a highly conserved three base exon in the MAP4K5 kinase locus.
Rna Biology
Kurkowiak, Małgorzata M; Grasso, Giuseppa G; Faktor, Jakub J; Scheiblecker, Lisa L; Winniczuk, Małgorzata M; Mayordomo, Marcos Yebenes MY; O'Neill, J Robert JR; Oster, Bodil B; Vojtesek, Borek B; Al-Saadi, Ali A; Marek-Trzonkowska, Natalia N; Hupp, Ted R TR
Publication Date: 2021-12
Variant appearance in text: MLH1: Gln391Arg
PubMed Link:
34190025
Variant Present in the following documents:
Main text
KRNB_18_1932345.pdf
View BVdb publication page
Sources of discordance among germ-line variant classifications in ClinVar.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10
Variant appearance in text: MLH1: 1172A>G; Gln391Arg
PubMed Link:
28569743
Variant Present in the following documents:
gim201760x7.xlsx, sheet 2
View BVdb publication page