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MLH1 c.107T>G ;(p.I36S)
Variant ID: 3-37035145-T-G
NM_000249.3(
MLH1
):c.107T>G;(p.I36S)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Elife
Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R
Publication Date: 2019-11-07
Variant appearance in text: MLH1: I36S
PubMed Link:
31697235
Variant Present in the following documents:
Main text
elife-49138.pdf
View BVdb publication page