ACTRT3 c.201-6T>C

Variant ID: 3-169486144-A-G

NM_032487.4(ACTRT3):c.201-6T>C

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.

Frontiers In Genetics
Gatua, Mercy M; Navari, Mohsen M; Ong'ondi, Matilda M; Onyango, Noel N; Kaggia, Serah S; Rogena, Emily E; Visani, Giuseppe G; Abinya, Nicholas A NA; Piccaluga, Pier Paolo PP
Publication Date: 2022

Variant appearance in text: rs9822885
PubMed Link: 35836575
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 3
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: ACTRT3: 201-6T>C; rs9822885
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs9822885
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs9822885
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
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: rs9822885
PubMed Link: 32109421
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs9822885
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

Nature Communications
Duffy, David L DL; Zhu, Gu G; Li, Xin X; Sanna, Marianna M; Iles, Mark M MM; Jacobs, Leonie C LC; Evans, David M DM; Yazar, Seyhan S; Beesley, Jonathan J; Law, Matthew H MH; Kraft, Peter P; Visconti, Alessia A; Taylor, John C JC; Liu, Fan F; Wright, Margaret J MJ; Henders, Anjali K AK; Bowdler, Lisa L; Glass, Dan D; Ikram, M Arfan MA; Uitterlinden, André G AG; Madden, Pamela A PA; Heath, Andrew C AC; Nelson, Elliot C EC; Green, Adele C AC; Chanock, Stephen S; Barrett, Jennifer H JH; Brown, Matthew A MA; Hayward, Nicholas K NK; MacGregor, Stuart S; Sturm, Richard A RA; Hewitt, Alex W AW; , ; Kayser, Manfred M; Hunter, David J DJ; Newton Bishop, Julia A JA; Spector, Timothy D TD; Montgomery, Grant W GW; Mackey, David A DA; Smith, George Davey GD; Nijsten, Tamar E TE; Bishop, D Timothy DT; Bataille, Veronique V; Falchi, Mario M; Han, Jiali J; Martin, Nicholas G NG
Publication Date: 2018-11-14

Variant appearance in text: rs9822885
PubMed Link: 30429480
Variant Present in the following documents:
  • 41467_2018_6649_MOESM1_ESM.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs9822885
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A genome-wide association study yields five novel thyroid cancer risk loci.

Nature Communications
Gudmundsson, Julius J; Thorleifsson, Gudmar G; Sigurdsson, Jon K JK; Stefansdottir, Lilja L; Jonasson, Jon G JG; Gudjonsson, Sigurjon A SA; Gudbjartsson, Daniel F DF; Masson, Gisli G; Johannsdottir, Hrefna H; Halldorsson, Gisli H GH; Stacey, Simon N SN; Helgason, Hannes H; Sulem, Patrick P; Senter, Leigha L; He, Huiling H; Liyanarachchi, Sandya S; Ringel, Matthew D MD; Aguillo, Esperanza E; Panadero, Angeles A; Prats, Enrique E; Garcia-Castaño, Almudena A; De Juan, Ana A; Rivera, Fernando F; Xu, Li L; Kiemeney, Lambertus A LA; Eyjolfsson, Gudmundur I GI; Sigurdardottir, Olof O; Olafsson, Isleifur I; Kristvinsson, Hoskuldur H; Netea-Maier, Romana T RT; Jonsson, Thorvaldur T; Mayordomo, Jose I JI; Plantinga, Theo S TS; Hjartarson, Hannes H; Hrafnkelsson, Jon J; Sturgis, Erich M EM; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; de la Chapelle, Albert A; Stefansson, Kari K
Publication Date: 2017-02-14

Variant appearance in text: rs9822885
PubMed Link: 28195142
Variant Present in the following documents:
  • Main text
  • ncomms14517.pdf
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: rs9822885
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



Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.

Frontiers In Genetics
Lee, Joseph H JH; Cheng, Rong R; Honig, Lawrence S LS; Feitosa, Mary M; Kammerer, Candace M CM; Kang, Min S MS; Schupf, Nicole N; Lin, Shiow J SJ; Sanders, Jason L JL; Bae, Harold H; Druley, Todd T; Perls, Thomas T; Christensen, Kaare K; Province, Michael M; Mayeux, Richard R
Publication Date: 2013

Variant appearance in text: rs9822885
PubMed Link: 24478790
Variant Present in the following documents:
  • Main text
  • fgene-04-00310.pdf
View BVdb publication page