POLE c.5965G>A ;(p.A1989T)

Variant ID: 12-133210811-C-T

NM_006231.2(POLE):c.5965G>A;(p.A1989T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: POLE: A1989T
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Orphanet Journal Of Rare Diseases
Barclay, Sarah F SF; Rand, Casey M CM; Borch, Lauren A LA; Nguyen, Lisa L; Gray, Paul A PA; Gibson, William T WT; Wilson, Richard J A RJ; Gordon, Paul M K PM; Aung, Zaw Z; Berry-Kravis, Elizabeth M EM; Ize-Ludlow, Diego D; Weese-Mayer, Debra E DE; Bech-Hansen, N Torben NT
Publication Date: 2015-08-25

Variant appearance in text: POLE: 5965G>A; A1989T
PubMed Link: 26302956
Variant Present in the following documents:
  • Main text
  • 13023_2015_Article_314.pdf
  • 13023_2015_314_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page