TP53 c.993+227A>C

Variant ID: 17-7576626-T-G

NM_000546.5(TP53):c.993+227A>C

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Publication Date: 2021-05

Variant appearance in text: TP53: 993+227A>C; rs764562217
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM1_ESM.pdf
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation
Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T
Publication Date: 2021-05

Variant appearance in text: TP53: 993+227A>C; rs764562217
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM1_ESM.pdf
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies
Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C
Publication Date: 2019-08

Variant appearance in text: TP53: 993+227A>C
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Cancer Research
Leroy, Bernard B; Ballinger, Mandy L ML; Baran-Marszak, Fanny F; Bond, Gareth L GL; Braithwaite, Antony A; Concin, Nicole N; Donehower, Lawrence A LA; El-Deiry, Wafik S WS; Fenaux, Pierre P; Gaidano, Gianluca G; Langerød, Anita A; Hellstrom-Lindberg, Eva E; Iggo, Richard R; Lehmann-Che, Jacqueline J; Mai, Phuong L PL; Malkin, David D; Moll, Ute M UM; Myers, Jeffrey N JN; Nichols, Kim E KE; Pospisilova, Sarka S; Ashton-Prolla, Patricia P; Rossi, Davide D; Savage, Sharon A SA; Strong, Louise C LC; Tonin, Patricia N PN; Zeillinger, Robert R; Zenz, Thorsten T; Fraumeni, Joseph F JF; Taschner, Peter E M PE; Hainaut, Pierre P; Soussi, Thierry T
Publication Date: 2017-03-15

Variant appearance in text: TP53: 993+227A>C; rs764562217
PubMed Link: 28254861
Variant Present in the following documents:
  • Main text
View BVdb publication page