TP53 c.924G>A ;(p.L308=)

Variant ID: 17-7576922-C-T

NM_000546.5(TP53):c.924G>A;(p.L308=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: TP53: 924G>A; Leu308=
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
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: 924G>A; Leu308=
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA.

Plos One
Gale, Davina D; Lawson, Andrew R J ARJ; Howarth, Karen K; Madi, Mikidache M; Durham, Bradley B; Smalley, Sarah S; Calaway, John J; Blais, Shannon S; Jones, Greg G; Clark, James J; Dimitrov, Peter P; Pugh, Michelle M; Woodhouse, Samuel S; Epstein, Michael M; Fernandez-Gonzalez, Ana A; Whale, Alexandra S AS; Huggett, Jim F JF; Foy, Carole A CA; Jones, Gerwyn M GM; Raveh-Amit, Hadas H; Schmitt, Karin K; Devonshire, Alison A; Green, Emma E; Forshew, Tim T; Plagnol, Vincent V; Rosenfeld, Nitzan N
Publication Date: 2018

Variant appearance in text: TP53: L308L
PubMed Link: 29547634
Variant Present in the following documents:
  • Main text
  • pone.0194630.pdf
View BVdb publication page