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MSH6 c.3762A>C ;(p.E1254D)
Variant ID: 2-48033458-A-C
NM_000179.2(
MSH6
):c.3762A>C;(p.E1254D)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Genome Biology
Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO
Publication Date: 2022-12-22
Variant appearance in text: MSH6: 3762A>C; E1254D
PubMed Link:
36550560
Variant Present in the following documents:
13059_2022_2839_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page
Analysis of the genomic landscape of yolk sac tumors reveals mechanisms of evolution and chemoresistance.
Nature Communications
Zong, Xuan X; Zhang, Ying Y; Peng, Xinxin X; Cao, Dongyan D; Yu, Mei M; Wang, Jinhui J; Li, Hongyue H; Guo, Xuejiao X; Liang, Han H; Yang, Jiaxin J
Publication Date: 2021-06-11
Variant appearance in text: MSH6: E1254D
PubMed Link:
34117242
Variant Present in the following documents:
41467_2021_23681_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
Genetic mutations in lung enteric adenocarcinoma identified using next-generation sequencing.
International Journal Of Clinical And Experimental Pathology
Lin, Li L; Zhuang, Wu W; Wang, Wenxian W; Xu, Chunwei C; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Shao, Yun Y; Tai, Yanhong Y; Chen, Yanping Y; Wu, Meijuan M; Wei, Jianguo J; Chen, Gang G
Publication Date: 2017
Variant appearance in text: MSH6: E1254D
PubMed Link:
31966835
Variant Present in the following documents:
Main text
View BVdb publication page
Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.
Cancer Management And Research
Gong, Rui R; He, Yuan Y; Liu, Xiao-Yun XY; Wang, Hai-Yun HY; Sun, Li-Yue LY; Yang, Xin-Hua XH; Li, Bin B; Cao, Xin-Kai XK; Ye, Zu-Lu ZL; Kong, Ling-Heng LH; Zhang, Da-Dong DD; Li, Yu-Hong YH; Xu, Rui-Hua RH; Shao, Jian-Yong JY
Publication Date: 2019
Variant appearance in text: MSH6: E1254D
PubMed Link:
31118792
Variant Present in the following documents:
cmar-11-3721.pdf
View BVdb publication page