MTHFR c.474A>T ;(p.G158=)

Variant ID: 1-11861219-T-A

NM_005957.4(MTHFR):c.474A>T;(p.G158=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.

Molecular Genetics & Genomic Medicine
Akler, Gidon G; Birch, Ashley H AH; Schreiber-Agus, Nicole N; Cai, Xiaoqiang X; Cai, Guiqing G; Shi, Lisong L; Yu, Chunli C; Larmore, Anastasia M AM; Mendiratta-Vij, Geetu G; Elkhoury, Lama L; Dillon, Mitchell W MW; Zhu, Jun J; Mclellan, Andrew S AS; Suer, Funda E FE; Webb, Bryn D BD; Schadt, Eric E EE; Kornreich, Ruth R; Edelmann, Lisa L
Publication Date: 2020-02

Variant appearance in text: MTHFR: 474A>T; G158=
PubMed Link: 31880409
Variant Present in the following documents:
  • MGG3-8-e1053-s001.xlsx, sheet 1
  • MGG3-8-e1053-s004.xlsx, sheet 1
  • MGG3-8-e1053-s002.xlsx, sheet 1
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: 474A>T
PubMed Link: 31068897
Variant Present in the following documents:
  • Main text
  • fneur-10-00411.pdf
View BVdb publication page



The population genetics of the Jewish people.

Human Genetics
Ostrer, Harry H; Skorecki, Karl K
Publication Date: 2013-02

Variant appearance in text: MTHFR: G158G
PubMed Link: 23052947
Variant Present in the following documents:
  • 439_2012_1235_MOESM1_ESM.xls, sheet 1
View BVdb publication page