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MUTYH c.424G>A ;(p.V142M)
Variant ID: 1-45798503-C-T
NM_001048174.1(
MUTYH
):c.424G>A;(p.V142M)
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: rs786203212
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into Malignancy
Iranian Biomedical Journal
Mahasneh, Amjad A; Al-Shaheri, Fawaz N. FN; BaniHani, Mohammed N. MN
Publication Date: 2019-11
Variant appearance in text: rs786203212
PubMed Link:
31104418
Variant Present in the following documents:
Main text
IBJ-23-412.pdf
View BVdb publication page