DOT1L c.1155C>A ;(p.T385=)

Variant ID: 19-2210658-C-A

NM_032482.2(DOT1L):c.1155C>A;(p.T385=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Generation of Whole-Genome Sequencing Data for Comparing Primary and Castration-Resistant Prostate Cancer.

Genomics & Informatics
Park, Jong-Lyul JL; Kim, Seon-Kyu SK; Kim, Jeong-Hwan JH; Yun, Seok Joong SJ; Kim, Wun-Jae WJ; Kim, Won Tae WT; Jeong, Pildu P; Kang, Ho Won HW; Kim, Seon-Young SY
Publication Date: 2018-09

Variant appearance in text: DOT1L: T385T
PubMed Link: 30309206
Variant Present in the following documents:
  • gi-2018-16-3-71.pdf
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: DOT1L: T385T
PubMed Link: 28991257
Variant Present in the following documents:
  • NIHMS906719-supplement-supp_datasets.xlsx, sheet 10
View BVdb publication page