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MTHFR c.742A>G ;(p.I248V)
Variant ID: 1-11856301-T-C
NM_005957.4(
MTHFR
):c.742A>G;(p.I248V)
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:
Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population.
Frontiers In Neurology
Oh, Eun Hye EH; Shin, Jin-Hong JH; Kim, Hyang-Sook HS; Cho, Jae Wook JW; Choi, Seo Young SY; Choi, Kwang-Dong KD; Rhee, Je-Keun JK; Lee, Seowhang S; Lee, Changwook C; Choi, Jae-Hwan JH
Publication Date: 2019
Variant appearance in text: MTHFR: 742A>G; Ile248Val
PubMed Link:
32038468
Variant Present in the following documents:
Main text
fneur-10-01424.pdf
View BVdb publication page
ARPNet: Antidepressant Response Prediction Network for Major Depressive Disorder.
Genes
Chang, Buru B; Choi, Yonghwa Y; Jeon, Minji M; Lee, Junhyun J; Han, Kyu-Man KM; Kim, Aram A; Ham, Byung-Joo BJ; Kang, Jaewoo J
Publication Date: 2019-11-07
Variant appearance in text: MTHFR: Ile248Val
PubMed Link:
31703457
Variant Present in the following documents:
genes-10-00907.pdf
View BVdb publication page
SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.
Bmc Cancer
Mei, Zhu Z; Shao, Yang W YW; Lin, Peinan P; Cai, Xiaomin X; Wang, Biao B; Ding, Yan Y; Ma, Xiangyuan X; Wu, Xue X; Xia, Yewei Y; Zhu, Dongqin D; Shu, Yongqian Y; Fu, Zan Z; Gu, Yanhong Y
Publication Date: 2018-04-27
Variant appearance in text: MTHFR: I248V
PubMed Link:
29703253
Variant Present in the following documents:
12885_2018_4298_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page