RB1 c.1956_1957insT ;(p.K653*)

Variant ID: 13-49030481-A-AT

NM_000321.2(RB1):c.1956_1957insT;(p.K653*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design.

Cell Reports
Rokita, Jo Lynne JL; Rathi, Komal S KS; Cardenas, Maria F MF; Upton, Kristen A KA; Jayaseelan, Joy J; Cross, Katherine L KL; Pfeil, Jacob J; Egolf, Laura E LE; Way, Gregory P GP; Farrel, Alvin A; Kendsersky, Nathan M NM; Patel, Khushbu K; Gaonkar, Krutika S KS; Modi, Apexa A; Berko, Esther R ER; Lopez, Gonzalo G; Vaksman, Zalman Z; Mayoh, Chelsea C; Nance, Jonas J; McCoy, Kristyn K; Haber, Michelle M; Evans, Kathryn K; McCalmont, Hannah H; Bendak, Katerina K; Böhm, Julia W JW; Marshall, Glenn M GM; Tyrrell, Vanessa V; Kalletla, Karthik K; Braun, Frank K FK; Qi, Lin L; Du, Yunchen Y; Zhang, Huiyuan H; Lindsay, Holly B HB; Zhao, Sibo S; Shu, Jack J; Baxter, Patricia P; Morton, Christopher C; Kurmashev, Dias D; Zheng, Siyuan S; Chen, Yidong Y; Bowen, Jay J; Bryan, Anthony C AC; Leraas, Kristen M KM; Coppens, Sara E SE; Doddapaneni, HarshaVardhan H; Momin, Zeineen Z; Zhang, Wendong W; Sacks, Gregory I GI; Hart, Lori S LS; Krytska, Kateryna K; Mosse, Yael P YP; Gatto, Gregory J GJ; Sanchez, Yolanda Y; Greene, Casey S CS; Diskin, Sharon J SJ; Vaske, Olena Morozova OM; Haussler, David D; Gastier-Foster, Julie M JM; Kolb, E Anders EA; Gorlick, Richard R; Li, Xiao-Nan XN; Reynolds, C Patrick CP; Kurmasheva, Raushan T RT; Houghton, Peter J PJ; Smith, Malcolm A MA; Lock, Richard B RB; Raman, Pichai P; Wheeler, David A DA; Maris, John M JM
Publication Date: 2019-11-05

Variant appearance in text: N/A
PubMed Link: 31693904
Variant Present in the following documents:
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: N/A
PubMed Link: 31513681
Variant Present in the following documents:
View BVdb publication page



Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

Molecular Vision
Singh, Jaya J; Mishra, Avshesh A; Pandian, Arunachalam Jayamuruga AJ; Mallipatna, Ashwin C AC; Khetan, Vikas V; Sripriya, S S; Kapoor, Suman S; Agarwal, Smita S; Sankaran, Satish S; Katragadda, Shanmukh S; Veeramachaneni, Vamsi V; Hariharan, Ramesh R; Subramanian, Kalyanasundaram K; Mannan, Ashraf U AU
Publication Date: 2016

Variant appearance in text: N/A
PubMed Link: 27582626
Variant Present in the following documents:
View BVdb publication page