TP53 c.180A>C ;(p.P60=)

Variant ID: 17-7579507-T-G

NM_000546.5(TP53):c.180A>C;(p.P60=)

This variant was identified in 6 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: P60=; rs749289195
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: P60=; rs749289195
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: 180A>C; Pro60=
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One
Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A
Publication Date: 2017

Variant appearance in text: TP53: P60P
PubMed Link: 29267365
Variant Present in the following documents:
  • pone.0189881.s008.xlsx, sheet 1
  • pone.0189881.s007.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TP53: 180A>C; Pro60=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget
Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H
Publication Date: 2017-01-31

Variant appearance in text: TP53: P60P
PubMed Link: 28002797
Variant Present in the following documents:
  • oncotarget-08-7852-s002.xlsx, sheet 1
View BVdb publication page



Multi-organ Mapping of Cancer Risk.

Cell
Zhu, Liqin L; Finkelstein, David D; Gao, Culian C; Shi, Lei L; Wang, Yongdong Y; López-Terrada, Dolores D; Wang, Kasper K; Utley, Sarah S; Pounds, Stanley S; Neale, Geoffrey G; Ellison, David D; Onar-Thomas, Arzu A; Gilbertson, Richard James RJ
Publication Date: 2016-08-25

Variant appearance in text: p53: P60=
PubMed Link: 27565343
Variant Present in the following documents:
  • Main text
View BVdb publication page