MTHFR c.1166+1G>A

Variant ID: 1-11854785-C-T

NM_005957.4(MTHFR):c.1166+1G>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Shifting landscapes of human MTHFR missense-variant effects.

American Journal Of Human Genetics
Weile, Jochen J; Kishore, Nishka N; Sun, Song S; Maaieh, Ranim R; Verby, Marta M; Li, Roujia R; Fotiadou, Iosifina I; Kitaygorodsky, Julia J; Wu, Yingzhou Y; Holenstein, Alexander A; Bürer, Céline C; Blomgren, Linnea L; Yang, Shan S; Nussbaum, Robert R; Rozen, Rima R; Watkins, David D; Gebbia, Marinella M; Kozich, Viktor V; Garton, Michael M; Froese, D Sean DS; Roth, Frederick P FP
Publication Date: 2021-07-01

Variant appearance in text: MTHFR: 1166+1G>A
PubMed Link: 34214447
Variant Present in the following documents:
  • mmc4.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: 1166+1G>A
PubMed Link: 31068897
Variant Present in the following documents:
  • Main text
  • fneur-10-00411.pdf
View BVdb publication page