PC c.685_687delinsTGT ;(p.G229C)

Variant ID: 11-66638310-CCC-ACA

NM_001040716.1(PC):c.685_687delinsTGT;(p.G229C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: PC: G229C
PubMed Link: 36914848
Variant Present in the following documents:
  • 41698_2023_366_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19

Variant appearance in text: PC: Gly229Cys
PubMed Link: 35046417
Variant Present in the following documents:
  • Main text
View BVdb publication page



The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine
Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG
Publication Date: 2022-01-19

Variant appearance in text: PC: Gly229Cys
PubMed Link: 35046417
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Plos Genetics
Rivas, Manuel A MA; Avila, Brandon E BE; Koskela, Jukka J; Huang, Hailiang H; Stevens, Christine C; Pirinen, Matti M; Haritunians, Talin T; Neale, Benjamin M BM; Kurki, Mitja M; Ganna, Andrea A; Graham, Daniel D; Glaser, Benjamin B; Peter, Inga I; Atzmon, Gil G; Barzilai, Nir N; Levine, Adam P AP; Schiff, Elena E; Pontikos, Nikolas N; Weisburd, Ben B; Lek, Monkol M; Karczewski, Konrad J KJ; Bloom, Jonathan J; Minikel, Eric V EV; Petersen, Britt-Sabina BS; Beaugerie, Laurent L; Seksik, Philippe P; Cosnes, Jacques J; Schreiber, Stefan S; Bokemeyer, Bernd B; Bethge, Johannes J; , ; , ; , ; Heap, Graham G; Ahmad, Tariq T; Plagnol, Vincent V; Segal, Anthony W AW; Targan, Stephan S; Turner, Dan D; Saavalainen, Paivi P; Farkkila, Martti M; Kontula, Kimmo K; Palotie, Aarno A; Brant, Steven R SR; Duerr, Richard H RH; Silverberg, Mark S MS; Rioux, John D JD; Weersma, Rinse K RK; Franke, Andre A; Jostins, Luke L; Anderson, Carl A CA; Barrett, Jeffrey C JC; MacArthur, Daniel G DG; Jalas, Chaim C; Sokol, Harry H; Xavier, Ramnik J RJ; Pulver, Ann A; Cho, Judy H JH; McGovern, Dermot P B DPB; Daly, Mark J MJ
Publication Date: 2018-05

Variant appearance in text: PC: Gly229Cys
PubMed Link: 29795570
Variant Present in the following documents:
  • Main text
  • pgen.1007329.pdf
View BVdb publication page