DDB2 c.1235-79T>C

Variant ID: 11-47260272-T-C

NM_000107.2(DDB2):c.1235-79T>C

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2013867
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs2013867
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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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: DDB2: 1235-79T>C; rs2013867
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2013867
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
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: rs2013867
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.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: rs2013867
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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: rs2013867
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, 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: rs2013867
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



Use of allele-specific FAIRE to determine functional regulatory polymorphism using large-scale genotyping arrays.

Plos Genetics
Smith, Andrew J P AJ; Howard, Philip P; Shah, Sonia S; Eriksson, Per P; Stender, Stefan S; Giambartolomei, Claudia C; Folkersen, Lasse L; Tybjærg-Hansen, Anne A; Kumari, Meena M; Palmen, Jutta J; Hingorani, Aroon D AD; Talmud, Philippa J PJ; Humphries, Steve E SE
Publication Date: 2012

Variant appearance in text: rs2013867
PubMed Link: 22916038
Variant Present in the following documents:
  • Main text
  • pgen.1002908.pdf
View BVdb publication page



Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Nature Genetics
Speliotes, Elizabeth K EK; Willer, Cristen J CJ; Berndt, Sonja I SI; Monda, Keri L KL; Thorleifsson, Gudmar G; Jackson, Anne U AU; Lango Allen, Hana H; Lindgren, Cecilia M CM; Luan, Jian'an J; Mägi, Reedik R; Randall, Joshua C JC; Vedantam, Sailaja S; Winkler, Thomas W TW; Qi, Lu L; Workalemahu, Tsegaselassie T; Heid, Iris M IM; Steinthorsdottir, Valgerdur V; Stringham, Heather M HM; Weedon, Michael N MN; Wheeler, Eleanor E; Wood, Andrew R AR; Ferreira, Teresa T; Weyant, Robert J RJ; Segrè, Ayellet V AV; Estrada, Karol K; Liang, Liming L; Nemesh, James J; Park, Ju-Hyun JH; Gustafsson, Stefan S; Kilpeläinen, Tuomas O TO; Yang, Jian J; Bouatia-Naji, Nabila N; Esko, Tõnu T; Feitosa, Mary F MF; Kutalik, Zoltán Z; Mangino, Massimo M; Raychaudhuri, Soumya S; Scherag, Andre A; Smith, Albert Vernon AV; Welch, Ryan R; Zhao, Jing Hua JH; Aben, Katja K KK; Absher, Devin M DM; Amin, Najaf N; Dixon, Anna L AL; Fisher, Eva E; Glazer, Nicole L NL; Goddard, Michael E ME; Heard-Costa, Nancy L NL; Hoesel, Volker V; Hottenga, Jouke-Jan JJ; Johansson, Asa A; Johnson, Toby T; Ketkar, Shamika S; Lamina, Claudia C; Li, Shengxu S; Moffatt, Miriam F MF; Myers, Richard H RH; Narisu, Narisu N; Perry, John R B JR; Peters, Marjolein J MJ; Preuss, Michael M; Ripatti, Samuli S; Rivadeneira, Fernando F; Sandholt, Camilla C; Scott, Laura J LJ; Timpson, Nicholas J NJ; Tyrer, Jonathan P JP; van Wingerden, Sophie S; Watanabe, Richard M RM; White, Charles C CC; Wiklund, Fredrik F; Barlassina, Christina C; Chasman, Daniel I DI; Cooper, Matthew N MN; Jansson, John-Olov JO; Lawrence, Robert W RW; Pellikka, Niina N; Prokopenko, Inga I; Shi, Jianxin J; Thiering, Elisabeth E; Alavere, Helene H; Alibrandi, Maria T S MT; Almgren, Peter P; Arnold, Alice M AM; Aspelund, Thor T; Atwood, Larry D LD; Balkau, Beverley B; Balmforth, Anthony J AJ; Bennett, Amanda J AJ; Ben-Shlomo, Yoav Y; Bergman, Richard N RN; Bergmann, Sven S; Biebermann, Heike H; Blakemore, Alexandra I F AI; Boes, Tanja T; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Brown, Morris J MJ; Buchanan, Thomas A TA; Busonero, Fabio F; Campbell, Harry H; Cappuccio, Francesco P FP; Cavalcanti-Proença, Christine C; Chen, Yii-Der Ida YD; Chen, Chih-Mei CM; Chines, Peter S PS; Clarke, Robert R; Coin, Lachlan L; Connell, John J; Day, Ian N M IN; den Heijer, Martin M; Duan, Jubao J; Ebrahim, Shah S; Elliott, Paul P; Elosua, Roberto R; Eiriksdottir, Gudny G; Erdos, Michael R MR; Eriksson, Johan G JG; Facheris, Maurizio F MF; Felix, Stephan B SB; Fischer-Posovszky, Pamela P; Folsom, Aaron R AR; Friedrich, Nele N; Freimer, Nelson B NB; Fu, Mao M; Gaget, Stefan S; Gejman, Pablo V PV; Geus, Eco J C EJ; Gieger, Christian C; Gjesing, Anette P AP; Goel, Anuj A; Goyette, Philippe P; Grallert, Harald H; Grässler, Jürgen J; Greenawalt, Danielle M DM; Groves, Christopher J CJ; Gudnason, Vilmundur V; Guiducci, Candace C; Hartikainen, Anna-Liisa AL; Hassanali, Neelam N; Hall, Alistair S AS; Havulinna, Aki S AS; Hayward, Caroline C; Heath, Andrew C AC; Hengstenberg, Christian C; Hicks, Andrew A AA; Hinney, Anke A; Hofman, Albert A; Homuth, Georg G; Hui, Jennie J; Igl, Wilmar W; Iribarren, Carlos C; Isomaa, Bo B; Jacobs, Kevin B KB; Jarick, Ivonne I; Jewell, Elizabeth E; John, Ulrich U; Jørgensen, Torben T; Jousilahti, Pekka P; Jula, Antti A; Kaakinen, Marika M; Kajantie, Eero E; Kaplan, Lee M LM; Kathiresan, Sekar S; Kettunen, Johannes J; Kinnunen, Leena L; Knowles, Joshua W JW; Kolcic, Ivana I; König, Inke R IR; Koskinen, Seppo S; Kovacs, Peter P; Kuusisto, Johanna J; Kraft, Peter P; Kvaløy, Kirsti K; Laitinen, Jaana J; Lantieri, Olivier O; Lanzani, Chiara C; Launer, Lenore J LJ; Lecoeur, Cecile C; Lehtimäki, Terho T; Lettre, Guillaume G; Liu, Jianjun J; Lokki, Marja-Liisa ML; Lorentzon, Mattias M; Luben, Robert N RN; Ludwig, Barbara B; , ; Manunta, Paolo P; Marek, Diana D; Marre, Michel M; Martin, Nicholas G NG; McArdle, Wendy L WL; McCarthy, Anne A; McKnight, Barbara B; Meitinger, Thomas T; Melander, Olle O; Meyre, David D; Midthjell, Kristian K; Montgomery, Grant W GW; Morken, Mario A MA; Morris, Andrew P AP; Mulic, Rosanda R; Ngwa, Julius S JS; Nelis, Mari M; Neville, Matt J MJ; Nyholt, Dale R DR; O'Donnell, Christopher J CJ; O'Rahilly, Stephen S; Ong, Ken K KK; Oostra, Ben B; Paré, Guillaume G; Parker, Alex N AN; Perola, Markus M; Pichler, Irene I; Pietiläinen, Kirsi H KH; Platou, Carl G P CG; Polasek, Ozren O; Pouta, Anneli A; Rafelt, Suzanne S; Raitakari, Olli O; Rayner, Nigel W NW; Ridderstråle, Martin M; Rief, Winfried W; Ruokonen, Aimo A; Robertson, Neil R NR; Rzehak, Peter P; Salomaa, Veikko V; Sanders, Alan R AR; Sandhu, Manjinder S MS; Sanna, Serena S; Saramies, Jouko J; Savolainen, Markku J MJ; Scherag, Susann S; Schipf, Sabine S; Schreiber, Stefan S; Schunkert, Heribert H; Silander, Kaisa K; Sinisalo, Juha J; Siscovick, David S DS; Smit, Jan H JH; Soranzo, Nicole N; Sovio, Ulla U; Stephens, Jonathan J; Surakka, Ida I; Swift, Amy J AJ; Tammesoo, Mari-Liis ML; Tardif, Jean-Claude JC; Teder-Laving, Maris M; Teslovich, Tanya M TM; Thompson, John R JR; Thomson, Brian B; Tönjes, Anke A; Tuomi, Tiinamaija T; van Meurs, Joyce B J JB; van Ommen, Gert-Jan GJ; Vatin, Vincent V; Viikari, Jorma J; Visvikis-Siest, Sophie S; Vitart, Veronique V; Vogel, Carla I G CI; Voight, Benjamin F BF; Waite, Lindsay L LL; Wallaschofski, Henri H; Walters, G Bragi GB; Widen, Elisabeth E; Wiegand, Susanna S; Wild, Sarah H SH; Willemsen, Gonneke G; Witte, Daniel R DR; Witteman, Jacqueline C JC; Xu, Jianfeng J; Zhang, Qunyuan Q; Zgaga, Lina L; Ziegler, Andreas A; Zitting, Paavo P; Beilby, John P JP; Farooqi, I Sadaf IS; Hebebrand, Johannes J; Huikuri, Heikki V HV; James, Alan L AL; Kähönen, Mika M; Levinson, Douglas F DF; Macciardi, Fabio F; Nieminen, Markku S MS; Ohlsson, Claes C; Palmer, Lyle J LJ; Ridker, Paul M PM; Stumvoll, Michael M; Beckmann, Jacques S JS; Boeing, Heiner H; Boerwinkle, Eric E; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Chanock, Stephen J SJ; Collins, Francis S FS; Cupples, L Adrienne LA; Smith, George Davey GD; Erdmann, Jeanette J; Froguel, Philippe P; Grönberg, Henrik H; Gyllensten, Ulf U; Hall, Per P; Hansen, Torben T; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayes, Richard B RB; Heinrich, Joachim J; Hu, Frank B FB; Hveem, Kristian K; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Kaprio, Jaakko J; Karpe, Fredrik F; Khaw, Kay-Tee KT; Kiemeney, Lambertus A LA; Krude, Heiko H; Laakso, Markku M; Lawlor, Debbie A DA; Metspalu, Andres A; Munroe, Patricia B PB; Ouwehand, Willem H WH; Pedersen, Oluf O; Penninx, Brenda W BW; Peters, Annette A; Pramstaller, Peter P PP; Quertermous, Thomas T; Reinehr, Thomas T; Rissanen, Aila A; Rudan, Igor I; Samani, Nilesh J NJ; Schwarz, Peter E H PE; Shuldiner, Alan R AR; Spector, Timothy D TD; Tuomilehto, Jaakko J; Uda, Manuela M; Uitterlinden, André A; Valle, Timo T TT; Wabitsch, Martin M; Waeber, Gérard G; Wareham, Nicholas J NJ; Watkins, Hugh H; , ; Wilson, James F JF; Wright, Alan F AF; Zillikens, M Carola MC; Chatterjee, Nilanjan N; McCarroll, Steven A SA; Purcell, Shaun S; Schadt, Eric E EE; Visscher, Peter M PM; Assimes, Themistocles L TL; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Groop, Leif C LC; Haritunians, Talin T; Hunter, David J DJ; Kaplan, Robert C RC; Mohlke, Karen L KL; O'Connell, Jeffrey R JR; Peltonen, Leena L; Schlessinger, David D; Strachan, David P DP; van Duijn, Cornelia M CM; Wichmann, H-Erich HE; Frayling, Timothy M TM; Thorsteinsdottir, Unnur U; Abecasis, Gonçalo R GR; Barroso, Inês I; Boehnke, Michael M; Stefansson, Kari K; North, Kari E KE; McCarthy, Mark I MI; Hirschhorn, Joel N JN; Ingelsson, Erik E; Loos, Ruth J F RJ
Publication Date: 2010-11

Variant appearance in text: rs2013867
PubMed Link: 20935630
Variant Present in the following documents:
  • NIHMS237282-supplement-1.pdf
View BVdb publication page



Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

American Journal Of Human Genetics
Melquist, Stacey S; Craig, David W DW; Huentelman, Matthew J MJ; Crook, Richard R; Pearson, John V JV; Baker, Matt M; Zismann, Victoria L VL; Gass, Jennifer J; Adamson, Jennifer J; Szelinger, Szabolcs S; Corneveaux, Jason J; Cannon, Ashley A; Coon, Keith D KD; Lincoln, Sarah S; Adler, Charles C; Tuite, Paul P; Calne, Donald B DB; Bigio, Eileen H EH; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Golbe, Lawrence I LI; Caselli, Richard J RJ; Graff-Radford, Neill N; Litvan, Irene I; Farrer, Matthew J MJ; Dickson, Dennis W DW; Hutton, Mike M; Stephan, Dietrich A DA
Publication Date: 2007-04

Variant appearance in text: rs2013867
PubMed Link: 17357082
Variant Present in the following documents:
  • Main text
View BVdb publication page