FTO c.247G>C ;(p.V83L)

Variant ID: 16-53859899-G-C

NM_001080432.2(FTO):c.247G>C;(p.V83L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: FTO: V83L
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Breast Cancer Research : Bcr
Li, Na N; Rowley, Simone M SM; Thompson, Ella R ER; McInerny, Simone S; Devereux, Lisa L; Amarasinghe, Kaushalya C KC; Zethoven, Magnus M; Lupat, Richard R; Goode, David D; Li, Jason J; Trainer, Alison H AH; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2018-01-09

Variant appearance in text: FTO: 247G>C; Val83Leu
PubMed Link: 29316957
Variant Present in the following documents:
  • 13058_2017_929_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing.

Plos One
Volckmar, Anna-Lena AL; Han, Chung Ting CT; Pütter, Carolin C; Haas, Stefan S; Vogel, Carla I G CI; Knoll, Nadja N; Struve, Christoph C; Göbel, Maria M; Haas, Katharina K; Herrfurth, Nikolas N; Jarick, Ivonne I; Grallert, Harald H; Schürmann, Annette A; Al-Hasani, Hadi H; Hebebrand, Johannes J; Sauer, Sascha S; Hinney, Anke A
Publication Date: 2016

Variant appearance in text: FTO: Val83Leu
PubMed Link: 26828654
Variant Present in the following documents:
  • Main text
  • pone.0147904.pdf
View BVdb publication page