FTO c.1002T>C ;(p.I334=)

Variant ID: 16-53913782-T-C

NM_001080432.2(FTO):c.1002T>C;(p.I334=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

Obesity (Silver Spring, Md.)
Deliard, Sandra S; Panossian, Saarene S; Mentch, Frank D FD; Kim, Cecilia E CE; Hou, Cuiping C; Frackelton, Edward C EC; Bradfield, Jonathan P JP; Glessner, Joseph T JT; Zhang, Haitao H; Wang, Kai K; Sleiman, Patrick M A PM; Chiavacci, Rosetta M RM; Berkowitz, Robert I RI; Hakonarson, Hakon H; Zhao, Jianhua J; Grant, Struan F A SF
Publication Date: 2013-01

Variant appearance in text: FTO: I334I
PubMed Link: 23505181
Variant Present in the following documents:
  • Main text
  • nihms-417070.pdf
View BVdb publication page



Prevalence of loss-of-function FTO mutations in lean and obese individuals.

Diabetes
Meyre, David D; Proulx, Karine K; Kawagoe-Takaki, Hiroko H; Vatin, Vincent V; Gutiérrez-Aguilar, Ruth R; Lyon, Debbie D; Ma, Marcella M; Choquet, Helene H; Horber, Fritz F; Van Hul, Wim W; Van Gaal, Luc L; Balkau, Beverley B; Visvikis-Siest, Sophie S; Pattou, François F; Farooqi, I Sadaf IS; Saudek, Vladimir V; O'Rahilly, Stephen S; Froguel, Philippe P; Sedgwick, Barbara B; Yeo, Giles S H GS
Publication Date: 2010-01

Variant appearance in text: FTO: I334I
PubMed Link: 19833892
Variant Present in the following documents:
  • Main text
  • zdb311.pdf
View BVdb publication page