FAT1 c.3265+124G>A

Variant ID: 4-187627593-C-T

NM_005245.3(FAT1):c.3265+124G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: FAT1: 3265+124G>A; rs3733409
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: FAT1: 3265+124G>A
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: FAT1: 3265+124G>A; rs3733409
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page



PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

Nature Communications
van Setten, Jessica J; Brody, Jennifer A JA; Jamshidi, Yalda Y; Swenson, Brenton R BR; Butler, Anne M AM; Campbell, Harry H; Del Greco, Fabiola M FM; Evans, Daniel S DS; Gibson, Quince Q; Gudbjartsson, Daniel F DF; Kerr, Kathleen F KF; Krijthe, Bouwe P BP; Lyytikäinen, Leo-Pekka LP; Müller, Christian C; Müller-Nurasyid, Martina M; Nolte, Ilja M IM; Padmanabhan, Sandosh S; Ritchie, Marylyn D MD; Robino, Antonietta A; Smith, Albert V AV; Steri, Maristella M; Tanaka, Toshiko T; Teumer, Alexander A; Trompet, Stella S; Ulivi, Sheila S; Verweij, Niek N; Yin, Xiaoyan X; Arnar, David O DO; Asselbergs, Folkert W FW; Bader, Joel S JS; Barnard, John J; Bis, Josh J; Blankenberg, Stefan S; Boerwinkle, Eric E; Bradford, Yuki Y; Buckley, Brendan M BM; Chung, Mina K MK; Crawford, Dana D; den Hoed, Marcel M; Denny, Josh C JC; Dominiczak, Anna F AF; Ehret, Georg B GB; Eijgelsheim, Mark M; Ellinor, Patrick T PT; Felix, Stephan B SB; Franco, Oscar H OH; Franke, Lude L; Harris, Tamara B TB; Holm, Hilma H; Ilaria, Gandin G; Iorio, Annamaria A; Kähönen, Mika M; Kolcic, Ivana I; Kors, Jan A JA; Lakatta, Edward G EG; Launer, Lenore J LJ; Lin, Honghuang H; Lin, Henry J HJ; Loos, Ruth J F RJF; Lubitz, Steven A SA; Macfarlane, Peter W PW; Magnani, Jared W JW; Leach, Irene Mateo IM; Meitinger, Thomas T; Mitchell, Braxton D BD; Munzel, Thomas T; Papanicolaou, George J GJ; Peters, Annette A; Pfeufer, Arne A; Pramstaller, Peter P PP; Raitakari, Olli T OT; Rotter, Jerome I JI; Rudan, Igor I; Samani, Nilesh J NJ; Schlessinger, David D; Silva Aldana, Claudia T CT; Sinner, Moritz F MF; Smith, Jonathan D JD; Snieder, Harold H; Soliman, Elsayed Z EZ; Spector, Timothy D TD; Stott, David J DJ; Strauch, Konstantin K; Tarasov, Kirill V KV; Thorsteinsdottir, Unnur U; Uitterlinden, Andre G AG; Van Wagoner, David R DR; Völker, Uwe U; Völzke, Henry H; Waldenberger, Melanie M; Jan Westra, Harm H; Wild, Philipp S PS; Zeller, Tanja T; Alonso, Alvaro A; Avery, Christy L CL; Bandinelli, Stefania S; Benjamin, Emelia J EJ; Cucca, Francesco F; Dörr, Marcus M; Ferrucci, Luigi L; Gasparini, Paolo P; Gudnason, Vilmundur V; Hayward, Caroline C; Heckbert, Susan R SR; Hicks, Andrew A AA; Jukema, J Wouter JW; Kääb, Stefan S; Lehtimäki, Terho T; Liu, Yongmei Y; Munroe, Patricia B PB; Parsa, Afshin A; Polasek, Ozren O; Psaty, Bruce M BM; Roden, Dan M DM; Schnabel, Renate B RB; Sinagra, Gianfranco G; Stefansson, Kari K; Stricker, Bruno H BH; van der Harst, Pim P; van Duijn, Cornelia M CM; Wilson, James F JF; Gharib, Sina A SA; de Bakker, Paul I W PIW; Isaacs, Aaron A; Arking, Dan E DE; Sotoodehnia, Nona N
Publication Date: 2018-07-25

Variant appearance in text: rs3733409
PubMed Link: 30046033
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4766.pdf
  • 41467_2018_4766_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page