MTHFR c.1236C>T ;(p.S412=)

Variant ID: 1-11854526-G-A

NM_005957.4(MTHFR):c.1236C>T;(p.S412=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: MTHFR: S412S
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacogenomics DNA Biomarkers in Colorectal Cancer: Current Update.

Frontiers In Pharmacology
Ab Mutalib, Nurul-Syakima NS; Md Yusof, Najwa F NF; Abdul, Shafina-Nadiawati SN; Jamal, Rahman R
Publication Date: 2017

Variant appearance in text: MTHFR: 1236C>T
PubMed Link: 29075194
Variant Present in the following documents:
  • Main text
  • fphar-08-00736.pdf
View BVdb publication page



Prediction of irinotecan and 5-fluorouracil toxicity and response in patients with advanced colorectal cancer.

The Pharmacogenomics Journal
Glimelius, B B; Garmo, H H; Berglund, A A; Fredriksson, L A LA; Berglund, M M; Kohnke, H H; Byström, P P; Sørbye, H H; Wadelius, M M
Publication Date: 2011-02

Variant appearance in text: MTHFR: 1236C>T
PubMed Link: 20177420
Variant Present in the following documents:
  • Main text
View BVdb publication page