POLE c.152A>C ;(p.E51A)

Variant ID: 12-133257776-T-G

NM_006231.2(POLE):c.152A>C;(p.E51A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Familial Cancer
Postema, Floor A M FAM; Hopman, Saskia M J SMJ; de Borgie, Corianne A J M CAJM; Aalfs, Cora M CM; Anninga, Jakob K JK; Berger, Lieke P V LPV; Bleeker, Fonnet E FE; Dommering, Charlotte J CJ; van Eijkelenburg, Natasha K A NKA; Hammond, Peter P; van den Heuvel-Eibrink, Marry M MM; Hol, Janna A JA; Kors, Wijnanda A WA; Letteboer, Tom G W TGW; Loeffen, Jan L C M JLCM; Meijer, Lisethe L; Olderode-Berends, Maran J W MJW; Wagner, Anja A; Hennekam, Raoul C RC; Merks, Johannes H M JHM
Publication Date: 2021-10

Variant appearance in text: POLE: 152A>C; Glu51Ala
PubMed Link: 33686467
Variant Present in the following documents:
  • 10689_2021_Article_237.pdf
View BVdb publication page



Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Familial Cancer
Postema, Floor A M FAM; Hopman, Saskia M J SMJ; de Borgie, Corianne A J M CAJM; Aalfs, Cora M CM; Anninga, Jakob K JK; Berger, Lieke P V LPV; Bleeker, Fonnet E FE; Dommering, Charlotte J CJ; van Eijkelenburg, Natasha K A NKA; Hammond, Peter P; van den Heuvel-Eibrink, Marry M MM; Hol, Janna A JA; Kors, Wijnanda A WA; Letteboer, Tom G W TGW; Loeffen, Jan L C M JLCM; Meijer, Lisethe L; Olderode-Berends, Maran J W MJW; Wagner, Anja A; Hennekam, Raoul C RC; Merks, Johannes H M JHM
Publication Date: 2021-10

Variant appearance in text: POLE: 152A>C; Glu51Ala
PubMed Link: 33686467
Variant Present in the following documents:
  • 10689_2021_Article_237.pdf
View BVdb publication page