MTHFR c.493_494inv ;(p.W165Q)

Variant ID: 1-11860361-CA-TG

NM_005957.4(MTHFR):c.493_494inv;(p.W165Q)

This variant was identified in 1 publication

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: Trp165Gln
PubMed Link: 34214447
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc6.pdf
View BVdb publication page