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MLH1 c.186A>C ;(p.Q62H)
Variant ID: 3-37038179-A-C
NM_000249.3(
MLH1
):c.186A>C;(p.Q62H)
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: Q62H
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.
International Journal Of Molecular Sciences
Liccardo, Raffaella R; De Rosa, Marina M; Rossi, Giovanni Battista GB; Carlomagno, Nicola N; Izzo, Paola P; Duraturo, Francesca F
Publication Date: 2017-05-06
Variant appearance in text: MLH1: 186A>C
PubMed Link:
28481244
Variant Present in the following documents:
Main text
ijms-18-00999.pdf
View BVdb publication page