CNNM2 c.1622-60746A>G

Variant ID: 10-104748718-A-G

NM_017649.4(CNNM2):c.1622-60746A>G

This variant was identified in 5 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: rs1890185
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia.

Nature Neuroscience
Zhu, Xiaowei X; Zhou, Bo B; Pattni, Reenal R; Gleason, Kelly K; Tan, Chunfeng C; Kalinowski, Agnieszka A; Sloan, Steven S; Fiston-Lavier, Anna-Sophie AS; Mariani, Jessica J; Petrov, Dmitri D; Barres, Ben A BA; Duncan, Laramie L; Abyzov, Alexej A; Vogel, Hannes H; , ; Moran, John V JV; Vaccarino, Flora M FM; Tamminga, Carol A CA; Levinson, Douglas F DF; Urban, Alexander E AE
Publication Date: 2021-02

Variant appearance in text: rs1890185
PubMed Link: 33432196
Variant Present in the following documents:
  • Main text
  • nihms-1648953.pdf
View BVdb publication page



Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia.

Nature Neuroscience
Zhu, Xiaowei X; Zhou, Bo B; Pattni, Reenal R; Gleason, Kelly K; Tan, Chunfeng C; Kalinowski, Agnieszka A; Sloan, Steven S; Fiston-Lavier, Anna-Sophie AS; Mariani, Jessica J; Petrov, Dmitri D; Barres, Ben A BA; Duncan, Laramie L; Abyzov, Alexej A; Vogel, Hannes H; , ; Moran, John V JV; Vaccarino, Flora M FM; Tamminga, Carol A CA; Levinson, Douglas F DF; Urban, Alexander E AE
Publication Date: 2021-02

Variant appearance in text: rs1890185
PubMed Link: 33432196
Variant Present in the following documents:
  • Main text
  • nihms-1648953.pdf
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs1890185
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-12.pdf
View BVdb publication page



Genetic analysis for a shared biological basis between migraine and coronary artery disease.

Neurology. Genetics
Winsvold, Bendik S BS; Nelson, Christopher P CP; Malik, Rainer R; Gormley, Padhraig P; Anttila, Verneri V; Vander Heiden, Jason J; Elliott, Katherine S KS; Jacobsen, Line M LM; Palta, Priit P; Amin, Najaf N; de Vries, Boukje B; Hämäläinen, Eija E; Freilinger, Tobias T; Ikram, M Arfan MA; Kessler, Thorsten T; Koiranen, Markku M; Ligthart, Lannie L; McMahon, George G; Pedersen, Linda M LM; Willenborg, Christina C; Won, Hong-Hee HH; Olesen, Jes J; Artto, Ville V; Assimes, Themistocles L TL; Blankenberg, Stefan S; Boomsma, Dorret I DI; Cherkas, Lynn L; Davey Smith, George G; Epstein, Stephen E SE; Erdmann, Jeanette J; Ferrari, Michel D MD; Göbel, Hartmut H; Hall, Alistair S AS; Jarvelin, Marjo-Riitta MR; Kallela, Mikko M; Kaprio, Jaakko J; Kathiresan, Sekar S; Lehtimäki, Terho T; McPherson, Ruth R; März, Winfried W; Nyholt, Dale R DR; O'Donnell, Christopher J CJ; Quaye, Lydia L; Rader, Daniel J DJ; Raitakari, Olli O; Roberts, Robert R; Schunkert, Heribert H; Schürks, Markus M; Stewart, Alexandre F R AF; Terwindt, Gisela M GM; Thorsteinsdottir, Unnur U; van den Maagdenberg, Arn M J M AM; van Duijn, Cornelia C; Wessman, Maija M; Kurth, Tobias T; Kubisch, Christian C; Dichgans, Martin M; Chasman, Daniel I DI; Cotsapas, Chris C; Zwart, John-Anker JA; Samani, Nilesh J NJ; Palotie, Aarno A; ,
Publication Date: 2015-06

Variant appearance in text: rs1890185
PubMed Link: 27066539
Variant Present in the following documents:
  • supp_1.1.e10_Tables_e-1-e-7.pdf
View BVdb publication page



Genome-wide meta-analysis identifies new susceptibility loci for migraine.

Nature Genetics
Anttila, Verneri V; Winsvold, Bendik S BS; Gormley, Padhraig P; Kurth, Tobias T; Bettella, Francesco F; McMahon, George G; Kallela, Mikko M; Malik, Rainer R; de Vries, Boukje B; Terwindt, Gisela G; Medland, Sarah E SE; Todt, Unda U; McArdle, Wendy L WL; Quaye, Lydia L; Koiranen, Markku M; Ikram, M Arfan MA; Lehtimäki, Terho T; Stam, Anine H AH; Ligthart, Lannie L; Wedenoja, Juho J; Dunham, Ian I; Neale, Benjamin M BM; Palta, Priit P; Hamalainen, Eija E; Schürks, Markus M; Rose, Lynda M LM; Buring, Julie E JE; Ridker, Paul M PM; Steinberg, Stacy S; Stefansson, Hreinn H; Jakobsson, Finnbogi F; Lawlor, Debbie A DA; Evans, David M DM; Ring, Susan M SM; Färkkilä, Markus M; Artto, Ville V; Kaunisto, Mari A MA; Freilinger, Tobias T; Schoenen, Jean J; Frants, Rune R RR; Pelzer, Nadine N; Weller, Claudia M CM; Zielman, Ronald R; Heath, Andrew C AC; Madden, Pamela A F PAF; Montgomery, Grant W GW; Martin, Nicholas G NG; Borck, Guntram G; Göbel, Hartmut H; Heinze, Axel A; Heinze-Kuhn, Katja K; Williams, Frances M K FMK; Hartikainen, Anna-Liisa AL; Pouta, Anneli A; van den Ende, Joyce J; Uitterlinden, Andre G AG; Hofman, Albert A; Amin, Najaf N; Hottenga, Jouke-Jan JJ; Vink, Jacqueline M JM; Heikkilä, Kauko K; Alexander, Michael M; Muller-Myhsok, Bertram B; Schreiber, Stefan S; Meitinger, Thomas T; Wichmann, Heinz Erich HE; Aromaa, Arpo A; Eriksson, Johan G JG; Traynor, Bryan B; Trabzuni, Daniah D; , ; , ; Rossin, Elizabeth E; Lage, Kasper K; Jacobs, Suzanne B R SBR; Gibbs, J Raphael JR; Birney, Ewan E; Kaprio, Jaakko J; Penninx, Brenda W BW; Boomsma, Dorret I DI; van Duijn, Cornelia C; Raitakari, Olli O; Jarvelin, Marjo-Riitta MR; Zwart, John-Anker JA; Cherkas, Lynn L; Strachan, David P DP; Kubisch, Christian C; Ferrari, Michel D MD; van den Maagdenberg, Arn M J M AMJM; Dichgans, Martin M; Wessman, Maija M; Smith, George Davey GD; Stefansson, Kari K; Daly, Mark J MJ; Nyholt, Dale R DR; Chasman, Daniel D; Palotie, Aarno A
Publication Date: 2013-08

Variant appearance in text: rs1890185
PubMed Link: 23793025
Variant Present in the following documents:
  • NIHMS53496-supplement-1.pdf
View BVdb publication page