KCNH2 c.307+1823G>C

Variant ID: 7-150669976-C-G

NM_000238.3(KCNH2):c.307+1823G>C

This variant was identified in 4 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: rs3778872
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs3778872
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

Scientific Reports
Méndez-Giráldez, Raúl R; Gogarten, Stephanie M SM; Below, Jennifer E JE; Yao, Jie J; Seyerle, Amanda A AA; Highland, Heather M HM; Kooperberg, Charles C; Soliman, Elsayed Z EZ; Rotter, Jerome I JI; Kerr, Kathleen F KF; Ryckman, Kelli K KK; Taylor, Kent D KD; Petty, Lauren E LE; Shah, Sanjiv J SJ; Conomos, Matthew P MP; Sotoodehnia, Nona N; Cheng, Susan S; Heckbert, Susan R SR; Sofer, Tamar T; Guo, Xiuqing X; Whitsel, Eric A EA; Lin, Henry J HJ; Hanis, Craig L CL; Laurie, Cathy C CC; Avery, Christy L CL
Publication Date: 2017-12-06

Variant appearance in text: rs3778872
PubMed Link: 29213071
Variant Present in the following documents:
  • 41598_2017_17136_MOESM1_ESM.pdf
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Impact of ancestry and common genetic variants on QT interval in African Americans.

Circulation. Cardiovascular Genetics
Smith, J Gustav JG; Avery, Christy L CL; Evans, Daniel S DS; Nalls, Michael A MA; Meng, Yan A YA; Smith, Erin N EN; Palmer, Cameron C; Tanaka, Toshiko T; Mehra, Reena R; Butler, Anne M AM; Young, Taylor T; Buxbaum, Sarah G SG; Kerr, Kathleen F KF; Berenson, Gerald S GS; Schnabel, Renate B RB; Li, Guo G; Ellinor, Patrick T PT; Magnani, Jared W JW; Chen, Wei W; Bis, Joshua C JC; Curb, J David JD; Hsueh, Wen-Chi WC; Rotter, Jerome I JI; Liu, Yongmei Y; Newman, Anne B AB; Limacher, Marian C MC; North, Kari E KE; Reiner, Alexander P AP; Quibrera, P Miguel PM; Schork, Nicholas J NJ; Singleton, Andrew B AB; Psaty, Bruce M BM; Soliman, Elsayed Z EZ; Solomon, Allen J AJ; Srinivasan, Sathanur R SR; Alonso, Alvaro A; Wallace, Robert R; Redline, Susan S; Zhang, Zhu-Ming ZM; Post, Wendy S WS; Zonderman, Alan B AB; Taylor, Herman A HA; Murray, Sarah S SS; Ferrucci, Luigi L; Arking, Dan E DE; Evans, Michele K MK; Fox, Ervin R ER; Sotoodehnia, Nona N; Heckbert, Susan R SR; Whitsel, Eric A EA; Newton-Cheh, Christopher C; ,
Publication Date: 2012-12

Variant appearance in text: rs3778872
PubMed Link: 23166209
Variant Present in the following documents:
  • Main text
View BVdb publication page