UGT1A8 c.540T>C ;(p.G180=)

Variant ID: 2-234526893-T-C

NM_019076.4(UGT1A8):c.540T>C;(p.G180=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: UGT1A8: 540T>C
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 22
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: UGT1A8: 540T>C; Gly180Gly; rs17863761
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page