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RB1 c.1887_1888del ;(p.E629Dfs*23)
Variant ID: 13-49030408-CAG-C
NM_000321.2(
RB1
):c.1887_1888del;(p.E629Dfs*23)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
High Incidence of C797S Mutation in Patients With Long Treatment History of EGFR Tyrosine Kinase Inhibitors Including Osimertinib.
Jto Clinical And Research Reports
Osoegawa, Atsushi A; Yamaguchi, Masafumi M; Nakamura, Tomomi T; Morinaga, Ryotaro R; Tanaka, Kentaro K; Kashiwabara, Kosuke K; Miura, Takashi T; Suetsugu, Takayuki T; Harada, Taishi T; Asoh, Tatsuma T; Taguchi, Kenichi K; Nabeshima, Kazuki K; Kishimoto, Junji J; Sakai, Kazuko K; Nishio, Kazuto K; Sugio, Kenji K
Publication Date: 2021-07
Variant appearance in text: RB1: 1887_1888delGA; Glu629fs
PubMed Link:
34590037
Variant Present in the following documents:
mmc1.xlsx, sheet 1
View BVdb publication page
Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.
Cancer Science
Sunami, Kuniko K; Ichikawa, Hitoshi H; Kubo, Takashi T; Kato, Mamoru M; Fujiwara, Yutaka Y; Shimomura, Akihiko A; Koyama, Takafumi T; Kakishima, Hiroki H; Kitami, Mayuko M; Matsushita, Hiromichi H; Furukawa, Eisaku E; Narushima, Daichi D; Nagai, Momoko M; Taniguchi, Hirokazu H; Motoi, Noriko N; Sekine, Shigeki S; Maeshima, Akiko A; Mori, Taisuke T; Watanabe, Reiko R; Yoshida, Masayuki M; Yoshida, Akihiko A; Yoshida, Hiroshi H; Satomi, Kaishi K; Sukeda, Aoi A; Hashimoto, Taiki T; Shimizu, Toshio T; Iwasa, Satoru S; Yonemori, Kan K; Kato, Ken K; Morizane, Chigusa C; Ogawa, Chitose C; Tanabe, Noriko N; Sugano, Kokichi K; Hiraoka, Nobuyoshi N; Tamura, Kenji K; Yoshida, Teruhiko T; Fujiwara, Yasuhiro Y; Ochiai, Atsushi A; Yamamoto, Noboru N; Kohno, Takashi T
Publication Date: 2019-04
Variant appearance in text: RB1: E629fs*23
PubMed Link:
30742731
Variant Present in the following documents:
CAS-110-1480-s003.xlsx, sheet 3
View BVdb publication page
Genetic screening in Iranian patients with retinoblastoma.
Eye (London, England)
Shahraki, K K; Ahani, A A; Sharma, P P; Faranoush, M M; Bahoush, G G; Torktaz, I I; Gahl, W A WA; Naseripour, M M; Behnam, B B
Publication Date: 2017-04
Variant appearance in text: RB1: 1887_1888delGA; Glu629AspfsX23
PubMed Link:
27983729
Variant Present in the following documents:
Main text
View BVdb publication page