ITPR3 c.7225+160G>C

Variant ID: 6-33659046-G-C

NM_002224.3(ITPR3):c.7225+160G>C

This variant was identified in 4 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: rs4711336
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs4711336
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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: rs4711336
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Hundreds of variants clustered in genomic loci and biological pathways affect human height.

Nature
Lango Allen, Hana H; Estrada, Karol K; Lettre, Guillaume G; Berndt, Sonja I SI; Weedon, Michael N MN; Rivadeneira, Fernando F; Willer, Cristen J CJ; Jackson, Anne U AU; Vedantam, Sailaja S; Raychaudhuri, Soumya S; Ferreira, Teresa T; Wood, Andrew R AR; Weyant, Robert J RJ; Segrè, Ayellet V AV; Speliotes, Elizabeth K EK; Wheeler, Eleanor E; Soranzo, Nicole N; Park, Ju-Hyun JH; Yang, Jian J; Gudbjartsson, Daniel D; Heard-Costa, Nancy L NL; Randall, Joshua C JC; Qi, Lu L; Vernon Smith, Albert A; Mägi, Reedik R; Pastinen, Tomi T; Liang, Liming L; Heid, Iris M IM; Luan, Jian'an J; Thorleifsson, Gudmar G; Winkler, Thomas W TW; Goddard, Michael E ME; Sin Lo, Ken K; Palmer, Cameron C; Workalemahu, Tsegaselassie T; Aulchenko, Yurii S YS; Johansson, Asa A; Zillikens, M Carola MC; Feitosa, Mary F MF; Esko, Tõnu T; Johnson, Toby T; Ketkar, Shamika S; Kraft, Peter P; Mangino, Massimo M; Prokopenko, Inga I; Absher, Devin D; Albrecht, Eva E; Ernst, Florian F; Glazer, Nicole L NL; Hayward, Caroline C; Hottenga, Jouke-Jan JJ; Jacobs, Kevin B KB; Knowles, Joshua W JW; Kutalik, Zoltán Z; Monda, Keri L KL; Polasek, Ozren O; Preuss, Michael M; Rayner, Nigel W NW; Robertson, Neil R NR; Steinthorsdottir, Valgerdur V; Tyrer, Jonathan P JP; Voight, Benjamin F BF; Wiklund, Fredrik F; Xu, Jianfeng J; Zhao, Jing Hua JH; Nyholt, Dale R DR; Pellikka, Niina N; Perola, Markus M; Perry, John R B JR; Surakka, Ida I; Tammesoo, Mari-Liis ML; Altmaier, Elizabeth L EL; Amin, Najaf N; Aspelund, Thor T; Bhangale, Tushar T; Boucher, Gabrielle G; Chasman, Daniel I DI; Chen, Constance C; Coin, Lachlan L; Cooper, Matthew N MN; Dixon, Anna L AL; Gibson, Quince Q; Grundberg, Elin E; Hao, Ke K; Juhani Junttila, M M; Kaplan, Lee M LM; Kettunen, Johannes J; König, Inke R IR; Kwan, Tony T; Lawrence, Robert W RW; Levinson, Douglas F DF; Lorentzon, Mattias M; McKnight, Barbara B; Morris, Andrew P AP; Müller, Martina M; Suh Ngwa, Julius J; Purcell, Shaun S; Rafelt, Suzanne S; Salem, Rany M RM; Salvi, Erika E; Sanna, Serena S; Shi, Jianxin J; Sovio, Ulla U; Thompson, John R JR; Turchin, Michael C MC; Vandenput, Liesbeth L; Verlaan, Dominique J DJ; Vitart, Veronique V; White, Charles C CC; Ziegler, Andreas A; Almgren, Peter P; Balmforth, Anthony J AJ; Campbell, Harry H; Citterio, Lorena L; De Grandi, Alessandro A; Dominiczak, Anna A; Duan, Jubao J; Elliott, Paul P; Elosua, Roberto R; Eriksson, Johan G JG; Freimer, Nelson B NB; Geus, Eco J C EJ; Glorioso, Nicola N; Haiqing, Shen S; Hartikainen, Anna-Liisa AL; Havulinna, Aki S AS; Hicks, Andrew A AA; Hui, Jennie J; Igl, Wilmar W; Illig, Thomas T; Jula, Antti A; Kajantie, Eero E; Kilpeläinen, Tuomas O TO; Koiranen, Markku M; Kolcic, Ivana I; Koskinen, Seppo S; Kovacs, Peter P; Laitinen, Jaana J; Liu, Jianjun J; Lokki, Marja-Liisa ML; Marusic, Ana A; Maschio, Andrea A; Meitinger, Thomas T; Mulas, Antonella A; Paré, Guillaume G; Parker, Alex N AN; Peden, John F JF; Petersmann, Astrid A; Pichler, Irene I; Pietiläinen, Kirsi H KH; Pouta, Anneli A; Ridderstråle, Martin M; Rotter, Jerome I JI; Sambrook, Jennifer G JG; Sanders, Alan R AR; Schmidt, Carsten Oliver CO; Sinisalo, Juha J; Smit, Jan H JH; Stringham, Heather M HM; Bragi Walters, G G; Widen, Elisabeth E; Wild, Sarah H SH; Willemsen, Gonneke G; Zagato, Laura L; Zgaga, Lina L; Zitting, Paavo P; Alavere, Helene H; Farrall, Martin M; McArdle, Wendy L WL; Nelis, Mari M; Peters, Marjolein J MJ; Ripatti, Samuli S; van Meurs, Joyce B J JB; Aben, Katja K KK; Ardlie, Kristin G KG; Beckmann, Jacques S JS; Beilby, John P JP; Bergman, Richard N RN; Bergmann, Sven S; Collins, Francis S FS; Cusi, Daniele D; den Heijer, Martin M; Eiriksdottir, Gudny G; Gejman, Pablo V PV; Hall, Alistair S AS; Hamsten, Anders A; Huikuri, Heikki V HV; Iribarren, Carlos C; Kähönen, Mika M; Kaprio, Jaakko J; Kathiresan, Sekar S; Kiemeney, Lambertus L; Kocher, Thomas T; Launer, Lenore J LJ; Lehtimäki, Terho T; Melander, Olle O; Mosley, Tom H TH; Musk, Arthur W AW; Nieminen, Markku S MS; O'Donnell, Christopher J CJ; Ohlsson, Claes C; Oostra, Ben B; Palmer, Lyle J LJ; Raitakari, Olli O; Ridker, Paul M PM; Rioux, John D JD; Rissanen, Aila A; Rivolta, Carlo C; Schunkert, Heribert H; Shuldiner, Alan R AR; Siscovick, David S DS; Stumvoll, Michael M; Tönjes, Anke A; Tuomilehto, Jaakko J; van Ommen, Gert-Jan GJ; Viikari, Jorma J; Heath, Andrew C AC; Martin, Nicholas G NG; Montgomery, Grant W GW; Province, Michael A MA; Kayser, Manfred M; Arnold, Alice M AM; Atwood, Larry D LD; Boerwinkle, Eric E; Chanock, Stephen J SJ; Deloukas, Panos P; Gieger, Christian C; Grönberg, Henrik H; Hall, Per P; Hattersley, Andrew T AT; Hengstenberg, Christian C; Hoffman, Wolfgang W; Lathrop, G Mark GM; Salomaa, Veikko V; Schreiber, Stefan S; Uda, Manuela M; Waterworth, Dawn D; Wright, Alan F AF; Assimes, Themistocles L TL; Barroso, Inês I; Hofman, Albert A; Mohlke, Karen L KL; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Cupples, L Adrienne LA; Erdmann, Jeanette J; Fox, Caroline S CS; Gudnason, Vilmundur V; Gyllensten, Ulf U; Harris, Tamara B TB; Hayes, Richard B RB; Jarvelin, Marjo-Riitta MR; Mooser, Vincent V; Munroe, Patricia B PB; Ouwehand, Willem H WH; Penninx, Brenda W BW; Pramstaller, Peter P PP; Quertermous, Thomas T; Rudan, Igor I; Samani, Nilesh J NJ; Spector, Timothy D TD; Völzke, Henry H; Watkins, Hugh H; Wilson, James F JF; Groop, Leif C LC; Haritunians, Talin T; Hu, Frank B FB; Kaplan, Robert C RC; Metspalu, Andres A; North, Kari E KE; Schlessinger, David D; Wareham, Nicholas J NJ; Hunter, David J DJ; O'Connell, Jeffrey R JR; Strachan, David P DP; Wichmann, H-Erich HE; Borecki, Ingrid B IB; van Duijn, Cornelia M CM; Schadt, Eric E EE; Thorsteinsdottir, Unnur U; Peltonen, Leena L; Uitterlinden, André G AG; Visscher, Peter M PM; Chatterjee, Nilanjan N; Loos, Ruth J F RJ; Boehnke, Michael M; McCarthy, Mark I MI; Ingelsson, Erik E; Lindgren, Cecilia M CM; Abecasis, Gonçalo R GR; Stefansson, Kari K; Frayling, Timothy M TM; Hirschhorn, Joel N JN
Publication Date: 2010-10-14

Variant appearance in text: rs4711336
PubMed Link: 20881960
Variant Present in the following documents:
  • Main text
  • nihms225625.pdf
View BVdb publication page