RB1 c.1218_1276del ;(p.C407*)

Variant ID: 13-48951056-ACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGAGTGAAGGATATAGGATACATCT-A

NM_000321.2(RB1):c.1218_1276del;(p.C407*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations.

The Journal Of Clinical Endocrinology And Metabolism
Casar-Borota, Olivera O; Boldt, Henning Bünsow HB; Engström, Britt Edén BE; Andersen, Marianne Skovsager MS; Baussart, Bertrand B; Bengtsson, Daniel D; Berinder, Katarina K; Ekman, Bertil B; Feldt-Rasmussen, Ulla U; Höybye, Charlotte C; Jørgensen, Jens Otto L JOL; Kolnes, Anders Jensen AJ; Korbonits, Márta M; Rasmussen, Åse Krogh ÅK; Lindsay, John R JR; Loughrey, Paul Benjamin PB; Maiter, Dominique D; Manojlovic-Gacic, Emilija E; Pahnke, Jens J; Poliani, Pietro Luigi PL; Popovic, Vera V; Ragnarsson, Oskar O; Schalin-Jäntti, Camilla C; Scheie, David D; Tóth, Miklós M; Villa, Chiara C; Wirenfeldt, Martin M; Kunicki, Jacek J; Burman, Pia P
Publication Date: 2021-03-25

Variant appearance in text: RB1: 1218_1697del
PubMed Link: 33106857
Variant Present in the following documents:
  • Main text
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