MTHFR c.330G>T ;(p.M110I)

Variant ID: 1-11861363-C-A

NM_005957.4(MTHFR):c.330G>T;(p.M110I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget
Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X
Publication Date: 2017-09-26

Variant appearance in text: MTHFR: M110I
PubMed Link: 29088863
Variant Present in the following documents:
  • oncotarget-08-75264-s003.xls, sheet 1
View BVdb publication page



Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Aneji, Chiamaka N CN; Northrup, Hope H; Au, Kit Sing KS
Publication Date: 2012-02

Variant appearance in text: MTHFR: Met110Ile
PubMed Link: 22241680
Variant Present in the following documents:
  • Main text
View BVdb publication page



The use of orthologous sequences to predict the impact of amino acid substitutions on protein function.

Plos Genetics
Marini, Nicholas J NJ; Thomas, Paul D PD; Rine, Jasper J
Publication Date: 2010-05-27

Variant appearance in text: MTHFR: M110I
PubMed Link: 20523748
Variant Present in the following documents:
  • Main text
View BVdb publication page