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MTHFR c.1969T>C ;(p.*657Rext*50)
Variant ID: 1-11850739-A-G
NM_005957.4(
MTHFR
):c.1969T>C;(p.*657Rext*50)
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:
The Role of Folate Deficiency as a Potential Risk Factor for Nontraumatic Anterior Spinal Artery Syndrome in an Adolescent Girl.
Brain Sciences
Hu, Chun-Chieh CC; Yang, Yung-Yu YY; Luxton, G W Gant GWG; Lin, Yu-Pang YP; Hung, Kuo-Sheng KS; Hu, Chih-Fen CF
Publication Date: 2022-10-29
Variant appearance in text: rs768434408
PubMed Link:
36358396
Variant Present in the following documents:
Main text
brainsci-12-01470.pdf
View BVdb publication page
Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.
Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07
Variant appearance in text: MTHFR: 1969T>C
PubMed Link:
32832622
Variant Present in the following documents:
aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.
Frontiers In Neurology
Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M
Publication Date: 2019
Variant appearance in text: MTHFR: 1969T>C
PubMed Link:
31068897
Variant Present in the following documents:
Main text
fneur-10-00411.pdf
View BVdb publication page