POLE c.919A>G ;(p.I307V)

Variant ID: 12-133252781-T-C

NM_006231.2(POLE):c.919A>G;(p.I307V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Role of POLE and POLD1 in familial cancer.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mur, Pilar P; García-Mulero, Sandra S; Del Valle, Jesús J; Magraner-Pardo, Lorena L; Vidal, August A; Pineda, Marta M; Cinnirella, Giacomo G; Martín-Ramos, Edgar E; Pons, Tirso T; López-Doriga, Adriana A; Belhadj, Sami S; Feliubadaló, Lidia L; Munoz-Torres, Pau M PM; Navarro, Matilde M; Grau, Elia E; Darder, Esther E; Llort, Gemma G; Sanz, Judit J; Ramón Y Cajal, Teresa T; Balmana, Judith J; Brunet, Joan J; Moreno, Victor V; Piulats, Josep M JM; Matías-Guiu, Xavier X; Sanz-Pamplona, Rebeca R; Aligué, Rosa R; Capellá, Gabriel G; Lázaro, Conxi C; Valle, Laura L
Publication Date: 2020-12

Variant appearance in text: POLE: 919A>G; Ile307Val
PubMed Link: 32792570
Variant Present in the following documents:
  • Main text
  • 41436_2020_Article_922.pdf
  • 41436_2020_922_MOESM1_ESM.pdf
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Clonal dynamics of donor-derived myelodysplastic syndrome after unrelated hematopoietic cell transplantation for high-risk pediatric B-lymphoblastic leukemia.

Cold Spring Harbor Molecular Case Studies
Schwartz, Jason R JR; Walsh, Michael P MP; Ma, Jing J; Lamprecht, Tamara T; Wang, Shuoguo S; Wu, Gang G; Raimondi, Susana S; Triplett, Brandon M BM; Klco, Jeffery M JM
Publication Date: 2018-10

Variant appearance in text: POLE: I307V
PubMed Link: 29891567
Variant Present in the following documents:
  • supp_mcs.a002980_Supplemental_Tables.xlsx, sheet 11
View BVdb publication page