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.




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