MTHFR c.1541_1542del ;(p.E514Vfs*23)

Variant ID: 1-11852424-ACT-A

NM_005957.4(MTHFR):c.1541_1542del;(p.E514Vfs*23)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: MTHFR: 1541_1542delAG
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 1541_1542del; Glu514Valfs
PubMed Link: 34214447
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page