POLE c.2070G>C ;(p.L690=)

Variant ID: 12-133245045-C-G

NM_006231.2(POLE):c.2070G>C;(p.L690=)

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:

Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome Medicine
Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A
Publication Date: 2021-11-09

Variant appearance in text: POLE: 2070G>C; Leu690=
PubMed Link: 34749799
Variant Present in the following documents:
  • 13073_2021_976_MOESM1_ESM.pdf
View BVdb publication page