KCNQ1 c.386+6417G>A

Variant ID: 11-2473131-G-A

NM_000218.2(KCNQ1):c.386+6417G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The Role of Genetic Variants in the Susceptibility of Noise-Induced Hearing Loss.

Frontiers In Cellular Neuroscience
Chen, Xue-Min XM; Xue, Xin-Miao XM; Yu, Ning N; Guo, Wei-Wei WW; Yuan, Shuo-Long SL; Jiang, Qing-Qing QQ; Yang, Shi-Ming SM
Publication Date: 2022

Variant appearance in text: rs800336
PubMed Link: 35903368
Variant Present in the following documents:
  • Main text
  • fncel-16-946206.pdf
View BVdb publication page



Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Valente, Federica Maria FM; Sparago, Angela A; Freschi, Andrea A; Hill-Harfe, Katherine K; Maas, Saskia M SM; Frints, Suzanna Gerarda Maria SGM; Alders, Marielle M; Pignata, Laura L; Franzese, Monica M; Angelini, Claudia C; Carli, Diana D; Mussa, Alessandro A; Gazzin, Andrea A; Gabbarini, Fulvio F; Acurzio, Basilia B; Ferrero, Giovanni Battista GB; Bliek, Jet J; Williams, Charles A CA; Riccio, Andrea A; Cerrato, Flavia F
Publication Date: 2019-08

Variant appearance in text: rs800336
PubMed Link: 30635621
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_416.pdf
View BVdb publication page



ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.

Circulation. Genomic And Precision Medicine
Bihlmeyer, Nathan A NA; Brody, Jennifer A JA; Smith, Albert Vernon AV; Warren, Helen R HR; Lin, Honghuang H; Isaacs, Aaron A; Liu, Ching-Ti CT; Marten, Jonathan J; Radmanesh, Farid F; Hall, Leanne M LM; Grarup, Niels N; Mei, Hao H; Müller-Nurasyid, Martina M; Huffman, Jennifer E JE; Verweij, Niek N; Guo, Xiuqing X; Yao, Jie J; Li-Gao, Ruifang R; van den Berg, Marten M; Weiss, Stefan S; Prins, Bram P BP; van Setten, Jessica J; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Bis, Joshua C JC; Austin, Tom T; Chen, Yii-Der Ida YI; Psaty, Bruce M BM; Harrris, Tamara B TB; Launer, Lenore J LJ; Padmanabhan, Sandosh S; Dominiczak, Anna A; Huang, Paul L PL; Xie, Zhijun Z; Ellinor, Patrick T PT; Kors, Jan A JA; Campbell, Archie A; Murray, Alison D AD; Nelson, Christopher P CP; Tobin, Martin D MD; Bork-Jensen, Jette J; Hansen, Torben T; Pedersen, Oluf O; Linneberg, Allan A; Sinner, Moritz F MF; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Perz, Siegfried S; Kolcic, Ivana I; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Lin, Henry J HJ; Taylor, Kent D KD; de Mutsert, Renée R; Trompet, Stella S; Jukema, J Wouter JW; Maan, Arie C AC; Stricker, Bruno H C BHC; Rivadeneira, Fernando F; Uitterlinden, André A; Völker, Uwe U; Homuth, Georg G; Völzke, Henry H; Felix, Stephan B SB; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Raitakari, Olli T OT; Kähönen, Mika M; Mononen, Nina N; Gudnason, Vilmundur V; Munroe, Patricia B PB; Lubitz, Steven A SA; van Duijn, Cornelia M CM; Newton-Cheh, Christopher H CH; Hayward, Caroline C; Rosand, Jonathan J; Samani, Nilesh J NJ; Kanters, Jørgen K JK; Wilson, James G JG; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Eijgelsheim, Mark M; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Arking, Dan E DE; Sotoodehnia, Nona N
Publication Date: 2018-01

Variant appearance in text: rs800336
PubMed Link: 29874175
Variant Present in the following documents:
  • hcg-11-e001758-s001.pdf
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Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis.

European Journal Of Human Genetics : Ejhg
Alders, Marielle M; Bliek, Jet J; vd Lip, Karin K; vd Bogaard, Ruud R; Mannens, Marcel M
Publication Date: 2009-04

Variant appearance in text: rs800336
PubMed Link: 18854861
Variant Present in the following documents:
  • Main text
View BVdb publication page