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MLH1 c.319A>G ;(p.I107V)
Variant ID: 3-37045904-A-G
NM_000249.3(
MLH1
):c.319A>G;(p.I107V)
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: MLH1: 319A>G; Ile107Val; rs572906317
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page
Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.
Cancer Science
Shao, Di D; Cheng, Shaomin S; Guo, Fengming F; Zhu, Changbin C; Yuan, Yuying Y; Hu, Kunling K; Wang, Zhe Z; Meng, Xuan X; Jin, Xin X; Xiong, Yun Y; Chai, Xianghua X; Li, Hong H; Zhang, Yu Y; Zhang, Hongyun H; Liu, Jihong J; Ye, Mingzhi M
Publication Date: 2020-02
Variant appearance in text: MLH1: 319A>G; Ile107Val; rs572906317
PubMed Link:
31742824
Variant Present in the following documents:
CAS-111-647-s002.xlsx, sheet 1
View BVdb publication page