MTHFR c.1485C>A ;(p.D495E)

Variant ID: 1-11854009-G-T

NM_005957.4(MTHFR):c.1485C>A;(p.D495E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Breast Cancer Research : Bcr
Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI
Publication Date: 2023-05-25

Variant appearance in text: MTHFR: 1485C>A; D495E
PubMed Link: 37231433
Variant Present in the following documents:
  • 13058_2023_1627_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer.

Journal Of Human Genetics
Lefevre, Jérémie H JH; Bonilla, Carolina C; Colas, Chrystelle C; Winney, Bruce B; Johnstone, Elaine E; Tonks, Susan S; Day, Tammy T; Hutnik, Katarzyna K; Boumertit, Abdelhamid A; Soubrier, Florent F; Midgley, Rachel R; Kerr, David D; Parc, Yann Y; Bodmer, Walter F WF
Publication Date: 2012-11-26

Variant appearance in text: MTHFR: D495E
PubMed Link: 22875147
Variant Present in the following documents:
  • Main text
View BVdb publication page