PYGB c.345+215G>T

Variant ID: 20-25240189-G-T

NM_002862.3(PYGB):c.345+215G>T

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: rs2281558
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs2281558
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



An Updated Mendelian Randomization Analysis of the Association Between Serum Calcium Levels and the Risk of Alzheimer's Disease.

Frontiers In Genetics
Shi, Yuchen Y; Liu, Ruifei R; Guo, Ying Y; Li, Qiwei Q; Zhou, Haichun H; Yu, Shaolei S; Liang, Hua H; Li, Zeguang Z
Publication Date: 2021

Variant appearance in text: rs2281558
PubMed Link: 34567081
Variant Present in the following documents:
  • Main text
  • fgene-12-731391.pdf
View BVdb publication page



Integrated Genetics and Micronutrient Data to Inform the Causal Association Between Serum Calcium Levels and Ischemic Stroke.

Frontiers In Cell And Developmental Biology
Meng, Qiang Q; Huang, Lu L; Tao, Kai K; Liu, Yong Y; Jing, Jiangpeng J; Wang, Wen W; Qin, Huaizhou H; Feng, Dayun D; Cai, Qing Q
Publication Date: 2020

Variant appearance in text: rs2281558
PubMed Link: 33262986
Variant Present in the following documents:
  • Main text
  • fcell-08-590903.pdf
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Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.

Plos Genetics
O'Seaghdha, Conall M CM; Wu, Hongsheng H; Yang, Qiong Q; Kapur, Karen K; Guessous, Idris I; Zuber, Annie Mercier AM; Köttgen, Anna A; Stoudmann, Candice C; Teumer, Alexander A; Kutalik, Zoltán Z; Mangino, Massimo M; Dehghan, Abbas A; Zhang, Weihua W; Eiriksdottir, Gudny G; Li, Guo G; Tanaka, Toshiko T; Portas, Laura L; Lopez, Lorna M LM; Hayward, Caroline C; Lohman, Kurt K; Matsuda, Koichi K; Padmanabhan, Sandosh S; Firsov, Dmitri D; Sorice, Rossella R; Ulivi, Sheila S; Brockhaus, A Catharina AC; Kleber, Marcus E ME; Mahajan, Anubha A; Ernst, Florian D FD; Gudnason, Vilmundur V; Launer, Lenore J LJ; Mace, Aurelien A; Boerwinckle, Eric E; Arking, Dan E DE; Tanikawa, Chizu C; Nakamura, Yusuke Y; Brown, Morris J MJ; Gaspoz, Jean-Michel JM; Theler, Jean-Marc JM; Siscovick, David S DS; Psaty, Bruce M BM; Bergmann, Sven S; Vollenweider, Peter P; Vitart, Veronique V; Wright, Alan F AF; Zemunik, Tatijana T; Boban, Mladen M; Kolcic, Ivana I; Navarro, Pau P; Brown, Edward M EM; Estrada, Karol K; Ding, Jingzhong J; Harris, Tamara B TB; Bandinelli, Stefania S; Hernandez, Dena D; Singleton, Andrew B AB; Girotto, Giorgia G; Ruggiero, Daniela D; d'Adamo, Adamo Pio AP; Robino, Antonietta A; Meitinger, Thomas T; Meisinger, Christa C; Davies, Gail G; Starr, John M JM; Chambers, John C JC; Boehm, Bernhard O BO; Winkelmann, Bernhard R BR; Huang, Jie J; Murgia, Federico F; Wild, Sarah H SH; Campbell, Harry H; Morris, Andrew P AP; Franco, Oscar H OH; Hofman, Albert A; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; Völker, Uwe U; Hannemann, Anke A; Biffar, Reiner R; Hoffmann, Wolfgang W; Shin, So-Youn SY; Lescuyer, Pierre P; Henry, Hughes H; Schurmann, Claudia C; , ; , ; Munroe, Patricia B PB; Gasparini, Paolo P; Pirastu, Nicola N; Ciullo, Marina M; Gieger, Christian C; März, Winfried W; Lind, Lars L; Spector, Tim D TD; Smith, Albert V AV; Rudan, Igor I; Wilson, James F JF; Polasek, Ozren O; Deary, Ian J IJ; Pirastu, Mario M; Ferrucci, Luigi L; Liu, Yongmei Y; Kestenbaum, Bryan B; Kooner, Jaspal S JS; Witteman, Jacqueline C M JC; Nauck, Matthias M; Kao, W H Linda WH; Wallaschofski, Henri H; Bonny, Olivier O; Fox, Caroline S CS; Bochud, Murielle M
Publication Date: 2013

Variant appearance in text: rs2281558
PubMed Link: 24068962
Variant Present in the following documents:
  • Main text
  • pgen.1003796.pdf
View BVdb publication page