KMT2D c.92C>A ;(p.S31*)

Variant ID: 12-49448767-G-T

NM_003482.3(KMT2D):c.92C>A;(p.S31*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.

Circulation
Krane, Markus M; Dreßen, Martina M; Santamaria, Gianluca G; My, Ilaria I; Schneider, Christine M CM; Dorn, Tatjana T; Laue, Svenja S; Mastantuono, Elisa E; Berutti, Riccardo R; Rawat, Hilansi H; Gilsbach, Ralf R; Schneider, Pedro P; Lahm, Harald H; Schwarz, Sascha S; Doppler, Stefanie A SA; Paige, Sharon S; Puluca, Nazan N; Doll, Sophia S; Neb, Irina I; Brade, Thomas T; Zhang, Zhong Z; Abou-Ajram, Claudia C; Northoff, Bernd B; Holdt, Lesca M LM; Sudhop, Stefanie S; Sahara, Makoto M; Goedel, Alexander A; Dendorfer, Andreas A; Tjong, Fleur V Y FVY; Rijlaarsdam, Maria E ME; Cleuziou, Julie J; Lang, Nora N; Kupatt, Christian C; Bezzina, Connie C; Lange, Rüdiger R; Bowles, Neil E NE; Mann, Matthias M; Gelb, Bruce D BD; Crotti, Lia L; Hein, Lutz L; Meitinger, Thomas T; Wu, Sean S; Sinnecker, Daniel D; Gruber, Peter J PJ; Laugwitz, Karl-Ludwig KL; Moretti, Alessandra A
Publication Date: 2021-10-26

Variant appearance in text: KMT2D: S31X
PubMed Link: 34694888
Variant Present in the following documents:
  • cir-144-1409-s001.xlsx, sheet 5
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: KMT2D: S31*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Genome Medicine
Sevim Bayrak, Cigdem C; Zhang, Peng P; Tristani-Firouzi, Martin M; Gelb, Bruce D BD; Itan, Yuval Y
Publication Date: 2020-01-15

Variant appearance in text: KMT2D: S31X
PubMed Link: 31941532
Variant Present in the following documents:
  • 13073_2019_709_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Robust identification of mosaic variants in congenital heart disease.

Human Genetics
Manheimer, Kathryn B KB; Richter, Felix F; Edelmann, Lisa J LJ; D'Souza, Sunita L SL; Shi, Lisong L; Shen, Yufeng Y; Homsy, Jason J; Boskovski, Marko T MT; Tai, Angela C AC; Gorham, Joshua J; Yasso, Christopher C; Goldmuntz, Elizabeth E; Brueckner, Martina M; Lifton, Richard P RP; Chung, Wendy K WK; Seidman, Christine E CE; Seidman, J G JG; Gelb, Bruce D BD
Publication Date: 2018-02

Variant appearance in text: KMT2D: S31*
PubMed Link: 29417219
Variant Present in the following documents:
  • Main text
View BVdb publication page



Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics
Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M
Publication Date: 2017-11

Variant appearance in text: KMT2D: S31X
PubMed Link: 28991257
Variant Present in the following documents:
  • NIHMS906719-supplement-supp_datasets.xlsx, sheet 9
View BVdb publication page