NOTCH4 c.451+260T>C

Variant ID: 6-32190028-A-G

NM_004557.3(NOTCH4):c.451+260T>C

This variant was identified in 13 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: rs3132946
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide association studies of COVID-19: Connecting the dots.

Infection, Genetics And Evolution : Journal Of Molecular Epidemiology And Evolutionary Genetics In Infectious Diseases
Ferreira, Leonardo C LC; Gomes, Carlos E M CEM; Rodrigues-Neto, João F JF; Jeronimo, Selma M B SMB
Publication Date: 2022-10-21

Variant appearance in text: rs3132946
PubMed Link: 36280088
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Capturing SNP Association across the NK Receptor and HLA Gene Regions in Multiple Sclerosis by Targeted Penalised Regression Models.

Genes
Burnard, Sean M SM; Lea, Rodney A RA; Benton, Miles M; Eccles, David D; Kennedy, Daniel W DW; Lechner-Scott, Jeannette J; Scott, Rodney J RJ
Publication Date: 2021-12-29

Variant appearance in text: rs3132946
PubMed Link: 35052430
Variant Present in the following documents:
  • Main text
View BVdb publication page



Capturing SNP Association across the NK Receptor and HLA Gene Regions in Multiple Sclerosis by Targeted Penalised Regression Models.

Genes
Burnard, Sean M SM; Lea, Rodney A RA; Benton, Miles M; Eccles, David D; Kennedy, Daniel W DW; Lechner-Scott, Jeannette J; Scott, Rodney J RJ
Publication Date: 2021-12-29

Variant appearance in text: rs3132946
PubMed Link: 35052430
Variant Present in the following documents:
  • Main text
View BVdb publication page



DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis.

Nature Communications
Kular, Lara L; Liu, Yun Y; Ruhrmann, Sabrina S; Zheleznyakova, Galina G; Marabita, Francesco F; Gomez-Cabrero, David D; James, Tojo T; Ewing, Ewoud E; Lindén, Magdalena M; Górnikiewicz, Bartosz B; Aeinehband, Shahin S; Stridh, Pernilla P; Link, Jenny J; Andlauer, Till F M TFM; Gasperi, Christiane C; Wiendl, Heinz H; Zipp, Frauke F; Gold, Ralf R; Tackenberg, Björn B; Weber, Frank F; Hemmer, Bernhard B; Strauch, Konstantin K; Heilmann-Heimbach, Stefanie S; Rawal, Rajesh R; Schminke, Ulf U; Schmidt, Carsten O CO; Kacprowski, Tim T; Franke, Andre A; Laudes, Matthias M; Dilthey, Alexander T AT; Celius, Elisabeth G EG; Søndergaard, Helle B HB; Tegnér, Jesper J; Harbo, Hanne F HF; Oturai, Annette B AB; Olafsson, Sigurgeir S; Eggertsson, Hannes P HP; Halldorsson, Bjarni V BV; Hjaltason, Haukur H; Olafsson, Elias E; Jonsdottir, Ingileif I; Stefansson, Kari K; Olsson, Tomas T; Piehl, Fredrik F; Ekström, Tomas J TJ; Kockum, Ingrid I; Feinberg, Andrew P AP; Jagodic, Maja M
Publication Date: 2018-06-19

Variant appearance in text: rs3132946
PubMed Link: 29921915
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4732.pdf
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Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine
Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN
Publication Date: 2016-12-13

Variant appearance in text: rs3132946
PubMed Link: 27964746
Variant Present in the following documents:
  • 13073_2016_383_MOESM1_ESM.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: rs3132946
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-8.pdf
View BVdb publication page



Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy.

Scientific Reports
Ye, Zimeng Z; Shuai, Ping P; Zhai, Yaru Y; Li, Fang F; Jiang, Lingxi L; Lu, Fang F; Wen, Feng F; Huang, Lulin L; Zhang, Dingding D; Liu, Xiaoqi X; Lin, Ying Y; Luo, Huaichao H; Zhang, Houbin H; Zhu, Xianjun X; Wu, Zhengzheng Z; Yang, Zhenglin Z; Gong, Bo B; Shi, Yi Y
Publication Date: 2016-02-10

Variant appearance in text: rs3132946
PubMed Link: 26861912
Variant Present in the following documents:
  • Main text
  • srep20914.pdf
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Efficient haplotype block recognition of very long and dense genetic sequences.

Bmc Bioinformatics
Taliun, Daniel D; Gamper, Johann J; Pattaro, Cristian C
Publication Date: 2014-01-14

Variant appearance in text: rs3132946
PubMed Link: 24423111
Variant Present in the following documents:
  • Main text
  • 1471-2105-15-10.pdf
View BVdb publication page



Genetic variants within the MHC region are associated with immune responsiveness to childhood vaccinations.

Vaccine
Yucesoy, Berran B; Talzhanov, Yerkebulan Y; Johnson, Victor J VJ; Wilson, Nevin W NW; Biagini, Raymond E RE; Wang, Wei W; Frye, Bonnie B; Weissman, David N DN; Germolec, Dori R DR; Luster, Michael I MI; Barmada, Michael M MM
Publication Date: 2013-11-04

Variant appearance in text: rs3132946
PubMed Link: 24075919
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.

Human Molecular Genetics
Cipriani, Valentina V; Leung, Hin-Tak HT; Plagnol, Vincent V; Bunce, Catey C; Khan, Jane C JC; Shahid, Humma H; Moore, Anthony T AT; Harding, Simon P SP; Bishop, Paul N PN; Hayward, Caroline C; Campbell, Susan S; Armbrecht, Ana Maria AM; Dhillon, Baljean B; Deary, Ian J IJ; Campbell, Harry H; Dunlop, Malcolm M; Dominiczak, Anna F AF; Mann, Samantha S SS; Jenkins, Sharon A SA; Webster, Andrew R AR; Bird, Alan C AC; Lathrop, Mark M; Zelenika, Diana D; Souied, Eric H EH; Sahel, José-Alain JA; Léveillard, Thierry T; , ; Cree, Angela J AJ; Gibson, Jane J; Ennis, Sarah S; Lotery, Andrew J AJ; Wright, Alan F AF; Clayton, David G DG; Yates, John R W JR
Publication Date: 2012-09-15

Variant appearance in text: rs3132946
PubMed Link: 22694956
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of novel candidate genes for Alzheimer's disease by autozygosity mapping using genome wide SNP data.

Journal Of Alzheimer'S Disease : Jad
Sherva, Richard R; Baldwin, Clinton T CT; Inzelberg, Rivka R; Vardarajan, Badri B; Cupples, L Adrienne LA; Lunetta, Kathryn K; Bowirrat, Abdalla A; Naj, Adam A; Pericak-Vance, Margaret M; Friedland, Robert P RP; Farrer, Lindsay A LA
Publication Date: 2011

Variant appearance in text: rs3132946
PubMed Link: 21098978
Variant Present in the following documents:
  • Main text
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A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms.

American Journal Of Human Genetics
Miretti, Marcos M MM; Walsh, Emily C EC; Ke, Xiayi X; Delgado, Marcos M; Griffiths, Mark M; Hunt, Sarah S; Morrison, Jonathan J; Whittaker, Pamela P; Lander, Eric S ES; Cardon, Lon R LR; Bentley, David R DR; Rioux, John D JD; Beck, Stephan S; Deloukas, Panos P
Publication Date: 2005-04

Variant appearance in text: rs3132946
PubMed Link: 15747258
Variant Present in the following documents:
  • Main text
View BVdb publication page