ATM c.2839-90G>T

Variant ID: 11-108141701-G-T

NM_000051.3(ATM):c.2839-90G>T

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: ATM: 2839-90G>T; rs651030
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: ATM: 2839-90G>T; rs651030
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: ATM: 2839-90G>T; rs651030
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



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: rs651030
PubMed Link: 32109421
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
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: ATM: 2839-90G>T; rs651030
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Plos One
Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM
Publication Date: 2017

Variant appearance in text: rs651030
PubMed Link: 28076423
Variant Present in the following documents:
  • pone.0167581.s001.xlsx, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs651030
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page