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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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