TYR c.819+1723A>T

Variant ID: 11-88913663-A-T

NM_000372.4(TYR):c.819+1723A>T

This variant was identified in 7 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: rs621313
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic and environmental risk factors for reticular pseudodrusen in the EUGENDA study.

Molecular Vision
Altay, Lebriz L; Liakopoulos, Sandra S; Berghold, Aileen A; Rosenberger, Kerstin-Daniela KD; Ernst, Angela A; de Breuk, Anita A; den Hollander, Anneke I AI; Fauser, Sascha S; Schick, Tina T
Publication Date: 2021

Variant appearance in text: rs621313
PubMed Link: 35136347
Variant Present in the following documents:
  • Main text
  • mv-v27-757.pdf
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Age-related macular degeneration: Epidemiology, genetics, pathophysiology, diagnosis, and targeted therapy.

Genes & Diseases
Deng, Yanhui Y; Qiao, Lifeng L; Du, Mingyan M; Qu, Chao C; Wan, Ling L; Li, Jie J; Huang, Lulin L
Publication Date: 2022-01

Variant appearance in text: rs621313
PubMed Link: 35005108
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.

Bmc Medical Genomics
Winkler, Thomas W TW; Grassmann, Felix F; Brandl, Caroline C; Kiel, Christina C; Günther, Felix F; Strunz, Tobias T; Weidner, Lorraine L; Zimmermann, Martina E ME; Korb, Christina A CA; Poplawski, Alicia A; Schuster, Alexander K AK; Müller-Nurasyid, Martina M; Peters, Annette A; Rauscher, Franziska G FG; Elze, Tobias T; Horn, Katrin K; Scholz, Markus M; Cañadas-Garre, Marisa M; McKnight, Amy Jayne AJ; Quinn, Nicola N; Hogg, Ruth E RE; Küchenhoff, Helmut H; Heid, Iris M IM; Stark, Klaus J KJ; Weber, Bernhard H F BHF
Publication Date: 2020-08-26

Variant appearance in text: rs621313
PubMed Link: 32843070
Variant Present in the following documents:
  • Main text
  • 12920_2020_Article_760.pdf
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Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Publication Date: 2018-05

Variant appearance in text: rs621313
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
View BVdb publication page



Using current data to define new approach in age related macular degeneration: need to accelerate translational research.

Current Genomics
Anand, Akshay A; Sharma, Kaushal K; Chen, Wei W; Sharma, Neel Kamal NK
Publication Date: 2014-08

Variant appearance in text: rs621313
PubMed Link: 25132797
Variant Present in the following documents:
  • Main text
  • CG-15-266.pdf
View BVdb publication page



Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.

Plos One
Holliday, Elizabeth G EG; Smith, Albert V AV; Cornes, Belinda K BK; Buitendijk, Gabriëlle H S GH; Jensen, Richard A RA; Sim, Xueling X; Aspelund, Thor T; Aung, Tin T; Baird, Paul N PN; Boerwinkle, Eric E; Cheng, Ching Yu CY; van Duijn, Cornelia M CM; Eiriksdottir, Gudny G; Gudnason, Vilmundur V; Harris, Tamara T; Hewitt, Alex W AW; Inouye, Michael M; Jonasson, Fridbert F; Klein, Barbara E K BE; Launer, Lenore L; Li, Xiaohui X; Liew, Gerald G; Lumley, Thomas T; McElduff, Patrick P; McKnight, Barbara B; Mitchell, Paul P; Psaty, Bruce M BM; Rochtchina, Elena E; Rotter, Jerome I JI; Scott, Rodney J RJ; Tay, Wanting W; Taylor, Kent K; Teo, Yik Ying YY; Uitterlinden, André G AG; Viswanathan, Ananth A; Xie, Sophia S; , ; Vingerling, Johannes R JR; Klaver, Caroline C W CC; Tai, E Shyong ES; Siscovick, David D; Klein, Ronald R; Cotch, Mary Frances MF; Wong, Tien Y TY; Attia, John J; Wang, Jie Jin JJ
Publication Date: 2013

Variant appearance in text: rs621313
PubMed Link: 23326517
Variant Present in the following documents:
  • Main text
  • pone.0053830.pdf
View BVdb publication page