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MLH1 c.2042C>A ;(p.A681D)
Variant ID: 3-37090447-C-A
NM_000249.3(
MLH1
):c.2042C>A;(p.A681D)
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:
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Scientific Reports
Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O
Publication Date: 2021-07-20
Variant appearance in text: MLH1: 2042C>A; Ala681Asp
PubMed Link:
34285288
Variant Present in the following documents:
41598_2021_94292_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page