NAT2 c.458C>T ;(p.T153I)

Variant ID: 8-18257971-C-T

NM_000015.2(NAT2):c.458C>T;(p.T153I)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.

Life Science Alliance
Gingras, Marie-Claude MC; Sabo, Aniko A; Cardenas, Maria M; Rana, Abbas A; Dhingra, Sadhna S; Meng, Qingchang Q; Hu, Jianhong J; Muzny, Donna M DM; Doddapaneni, Harshavardhan H; Perez, Lesette L; Korchina, Viktoriya V; Nessner, Caitlin C; Liu, Xiuping X; Chao, Hsu H; Goss, John J; Gibbs, Richard A RA
Publication Date: 2021-09

Variant appearance in text: rs72466460
PubMed Link: 34301805
Variant Present in the following documents:
  • LSA-2020-00941_TableS3.xlsx, sheet 1
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: rs72466460
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: NAT2: T153I; rs72466460
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page