POT1 c.1007-205A>G

Variant ID: 7-124483222-T-C

NM_015450.2(POT1):c.1007-205A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.

American Journal Of Human Genetics
Li, Chen C; Stoma, Svetlana S; Lotta, Luca A LA; Warner, Sophie S; Albrecht, Eva E; Allione, Alessandra A; Arp, Pascal P PP; Broer, Linda L; Buxton, Jessica L JL; Da Silva Couto Alves, Alexessander A; Deelen, Joris J; Fedko, Iryna O IO; Gordon, Scott D SD; Jiang, Tao T; Karlsson, Robert R; Kerrison, Nicola N; Loe, Taylor K TK; Mangino, Massimo M; Milaneschi, Yuri Y; Miraglio, Benjamin B; Pervjakova, Natalia N; Russo, Alessia A; Surakka, Ida I; van der Spek, Ashley A; Verhoeven, Josine E JE; Amin, Najaf N; Beekman, Marian M; Blakemore, Alexandra I AI; Canzian, Federico F; Hamby, Stephen E SE; Hottenga, Jouke-Jan JJ; Jones, Peter D PD; Jousilahti, Pekka P; Mägi, Reedik R; Medland, Sarah E SE; Montgomery, Grant W GW; Nyholt, Dale R DR; Perola, Markus M; Pietiläinen, Kirsi H KH; Salomaa, Veikko V; Sillanpää, Elina E; Suchiman, H Eka HE; van Heemst, Diana D; Willemsen, Gonneke G; Agudo, Antonio A; Boeing, Heiner H; Boomsma, Dorret I DI; Chirlaque, Maria-Dolores MD; Fagherazzi, Guy G; Ferrari, Pietro P; Franks, Paul P; Gieger, Christian C; Eriksson, Johan Gunnar JG; Gunter, Marc M; Hägg, Sara S; Hovatta, Iiris I; Imaz, Liher L; Kaprio, Jaakko J; Kaaks, Rudolf R; Key, Timothy T; Krogh, Vittorio V; Martin, Nicholas G NG; Melander, Olle O; Metspalu, Andres A; Moreno, Concha C; Onland-Moret, N Charlotte NC; Nilsson, Peter P; Ong, Ken K KK; Overvad, Kim K; Palli, Domenico D; Panico, Salvatore S; Pedersen, Nancy L NL; Penninx, Brenda W J H BWJH; Quirós, J Ramón JR; Jarvelin, Marjo Riitta MR; Rodríguez-Barranco, Miguel M; Scott, Robert A RA; Severi, Gianluca G; Slagboom, P Eline PE; Spector, Tim D TD; Tjonneland, Anne A; Trichopoulou, Antonia A; Tumino, Rosario R; Uitterlinden, André G AG; van der Schouw, Yvonne T YT; van Duijn, Cornelia M CM; Weiderpass, Elisabete E; Denchi, Eros Lazzerini EL; Matullo, Giuseppe G; Butterworth, Adam S AS; Danesh, John J; Samani, Nilesh J NJ; Wareham, Nicholas J NJ; Nelson, Christopher P CP; Langenberg, Claudia C; Codd, Veryan V
Publication Date: 2020-03-05

Variant appearance in text: rs7801661
PubMed Link: 32109421
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
View BVdb publication page



A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families.

Nature Communications
Calvete, Oriol O; Martinez, Paula P; Garcia-Pavia, Pablo P; Benitez-Buelga, Carlos C; Paumard-Hernández, Beatriz B; Fernandez, Victoria V; Dominguez, Fernando F; Salas, Clara C; Romero-Laorden, Nuria N; Garcia-Donas, Jesus J; Carrillo, Jaime J; Perona, Rosario R; Triviño, Juan Carlos JC; Andrés, Raquel R; Cano, Juana María JM; Rivera, Bárbara B; Alonso-Pulpon, Luis L; Setien, Fernando F; Esteller, Manel M; Rodriguez-Perales, Sandra S; Bougeard, Gaelle G; Frebourg, Tierry T; Urioste, Miguel M; Blasco, Maria A MA; Benítez, Javier J
Publication Date: 2015-09-25

Variant appearance in text: rs7801661
PubMed Link: 26403419
Variant Present in the following documents:
  • ncomms9383-s1.pdf
View BVdb publication page



Genetic variation in telomere maintenance genes in relation to ovarian cancer survival.

International Journal Of Molecular Epidemiology And Genetics
Harris, Holly R HR; Vivo, Immaculata De ID; Titus, Linda J LJ; Vitonis, Allison F AF; Wong, Jason Y Y JY; Cramer, Daniel W DW; Terry, Kathryn L KL
Publication Date: 2012

Variant appearance in text: rs7801661
PubMed Link: 23050056
Variant Present in the following documents:
  • Main text
View BVdb publication page