KMT2D c.15751G>A ;(p.E5251K)

Variant ID: 12-49419998-C-T

NM_003482.3(KMT2D):c.15751G>A;(p.E5251K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.

Frontiers In Endocrinology
Huang, Miao M; Lu, Xiyan X; Dong, Guoqing G; Li, Jianxu J; Chen, Chengcong C; Yu, Qiuxia Q; Li, Mingzhu M; Su, Yueyue Y
Publication Date: 2021

Variant appearance in text: KMT2D: 15751G>A
PubMed Link: 34276565
Variant Present in the following documents:
  • fendo-12-695426.pdf
View BVdb publication page



Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications
Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA
Publication Date: 2020-04-24

Variant appearance in text: KMT2D: 15751G>A; E5251K
PubMed Link: 32332851
Variant Present in the following documents:
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page