SWAP70 c.1188+51G>A

Variant ID: 11-9759918-G-A

NM_015055.2(SWAP70):c.1188+51G>A

This variant was identified in 8 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: rs173396
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: SWAP70: 1188+51G>A; rs173396
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: rs173396
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: SWAP70: 1188+51G>A; rs173396
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.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: SWAP70: 1188+51G>A; rs173396
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.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: rs173396
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.

Nature Genetics
Nikpay, Majid M; Goel, Anuj A; Won, Hong-Hee HH; Hall, Leanne M LM; Willenborg, Christina C; Kanoni, Stavroula S; Saleheen, Danish D; Kyriakou, Theodosios T; Nelson, Christopher P CP; Hopewell, Jemma C JC; Webb, Thomas R TR; Zeng, Lingyao L; Dehghan, Abbas A; Alver, Maris M; Armasu, Sebastian M SM; Auro, Kirsi K; Bjonnes, Andrew A; Chasman, Daniel I DI; Chen, Shufeng S; Ford, Ian I; Franceschini, Nora N; Gieger, Christian C; Grace, Christopher C; Gustafsson, Stefan S; Huang, Jie J; Hwang, Shih-Jen SJ; Kim, Yun Kyoung YK; Kleber, Marcus E ME; Lau, King Wai KW; Lu, Xiangfeng X; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; Mihailov, Evelin E; Morrison, Alanna C AC; Pervjakova, Natalia N; Qu, Liming L; Rose, Lynda M LM; Salfati, Elias E; Saxena, Richa R; Scholz, Markus M; Smith, Albert V AV; Tikkanen, Emmi E; Uitterlinden, Andre A; Yang, Xueli X; Zhang, Weihua W; Zhao, Wei W; de Andrade, Mariza M; de Vries, Paul S PS; van Zuydam, Natalie R NR; Anand, Sonia S SS; Bertram, Lars L; Beutner, Frank F; Dedoussis, George G; Frossard, Philippe P; Gauguier, Dominique D; Goodall, Alison H AH; Gottesman, Omri O; Haber, Marc M; Han, Bok-Ghee BG; Huang, Jianfeng J; Jalilzadeh, Shapour S; Kessler, Thorsten T; König, Inke R IR; Lannfelt, Lars L; Lieb, Wolfgang W; Lind, Lars L; Lindgren, Cecilia M CM; Lokki, Marja-Liisa ML; Magnusson, Patrik K PK; Mallick, Nadeem H NH; Mehra, Narinder N; Meitinger, Thomas T; Memon, Fazal-Ur-Rehman FU; Morris, Andrew P AP; Nieminen, Markku S MS; Pedersen, Nancy L NL; Peters, Annette A; Rallidis, Loukianos S LS; Rasheed, Asif A; Samuel, Maria M; Shah, Svati H SH; Sinisalo, Juha J; Stirrups, Kathleen E KE; Trompet, Stella S; Wang, Laiyuan L; Zaman, Khan S KS; Ardissino, Diego D; Boerwinkle, Eric E; Borecki, Ingrid B IB; Bottinger, Erwin P EP; Buring, Julie E JE; Chambers, John C JC; Collins, Rory R; Cupples, L Adrienne LA; Danesh, John J; Demuth, Ilja I; Elosua, Roberto R; Epstein, Stephen E SE; Esko, Tõnu T; Feitosa, Mary F MF; Franco, Oscar H OH; Franzosi, Maria Grazia MG; Granger, Christopher B CB; Gu, Dongfeng D; Gudnason, Vilmundur V; Hall, Alistair S AS; Hamsten, Anders A; Harris, Tamara B TB; Hazen, Stanley L SL; Hengstenberg, Christian C; Hofman, Albert A; Ingelsson, Erik E; Iribarren, Carlos C; Jukema, J Wouter JW; Karhunen, Pekka J PJ; Kim, Bong-Jo BJ; Kooner, Jaspal S JS; Kullo, Iftikhar J IJ; Lehtimäki, Terho T; Loos, Ruth J F RJF; Melander, Olle O; Metspalu, Andres A; März, Winfried W; Palmer, Colin N CN; Perola, Markus M; Quertermous, Thomas T; Rader, Daniel J DJ; Ridker, Paul M PM; Ripatti, Samuli S; Roberts, Robert R; Salomaa, Veikko V; Sanghera, Dharambir K DK; Schwartz, Stephen M SM; Seedorf, Udo U; Stewart, Alexandre F AF; Stott, David J DJ; Thiery, Joachim J; Zalloua, Pierre A PA; O'Donnell, Christopher J CJ; Reilly, Muredach P MP; Assimes, Themistocles L TL; Thompson, John R JR; Erdmann, Jeanette J; Clarke, Robert R; Watkins, Hugh H; Kathiresan, Sekar S; McPherson, Ruth R; Deloukas, Panos P; Schunkert, Heribert H; Samani, Nilesh J NJ; Farrall, Martin M
Publication Date: 2015-10

Variant appearance in text: rs173396
PubMed Link: 26343387
Variant Present in the following documents:
  • Main text
  • emss-64693.pdf
View BVdb publication page



Identification of novel SNPs in glioblastoma using targeted resequencing.

Plos One
Keller, Andreas A; Harz, Christian C; Matzas, Mark M; Meder, Benjamin B; Katus, Hugo A HA; Ludwig, Nicole N; Fischer, Ulrike U; Meese, Eckart E
Publication Date: 2011

Variant appearance in text: rs173396
PubMed Link: 21695249
Variant Present in the following documents:
  • pone.0018158.s001.xls, sheet 4
  • pone.0018158.s001.xls, sheet 2
View BVdb publication page