POLE c.1240G>A ;(p.D414N)

Variant ID: 12-133250280-C-T

NM_006231.2(POLE):c.1240G>A;(p.D414N)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Phenotype of POLE-mutated endometrial cancer.

Plos One
Imboden, Sara S; Nastic, Denis D; Ghaderi, Mehran M; Rydberg, Filippa F; Rau, Tilman T TT; Mueller, Michael D MD; Epstein, Elisabeth E; Carlson, Joseph W JW
Publication Date: 2019

Variant appearance in text: POLE: 1240G>A; D414N
PubMed Link: 30917185
Variant Present in the following documents:
  • Main text
  • pone.0214318.pdf
View BVdb publication page