POLE c.5068G>T ;(p.A1690S)

Variant ID: 12-133218868-C-A

NM_006231.2(POLE):c.5068G>T;(p.A1690S)

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:

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice
Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S
Publication Date: 2019

Variant appearance in text: POLE: 5068G>T; Ala1690Ser
PubMed Link: 30680046
Variant Present in the following documents:
  • Main text
  • 13053_2018_102_MOESM5_ESM.xlsx, sheet 1
  • 13053_2018_Article_102.pdf
View BVdb publication page