RB1 c.596del ;(p.L199Yfs*2)

Variant ID: 13-48923143-AT-A

NM_000321.2(RB1):c.596del;(p.L199Yfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Distribution of somatic mutations of cancer-related genes according to microsatellite instability status in Korean gastric cancer.

Medicine
Park, Joonhong J; Yoo, Han Mo HM; Jang, Woori W; Shin, Soyoung S; Kim, Myungshin M; Kim, Yonggoo Y; Lee, Seung-Woo SW; Kim, Jeong Goo JG
Publication Date: 2017-06

Variant appearance in text: RB1: 596delT; Leu199fs
PubMed Link: 28640116
Variant Present in the following documents:
  • medi-96-e7224.pdf
View BVdb publication page



RB1 mutations and second primary malignancies after hereditary retinoblastoma.

Familial Cancer
Dommering, Charlotte J CJ; Marees, Tamara T; van der Hout, Annemarie H AH; Imhof, Saskia M SM; Meijers-Heijboer, Hanne H; Ringens, Peter J PJ; van Leeuwen, Flora E FE; Moll, Annette C AC
Publication Date: 2012-06

Variant appearance in text: RB1: Leu199TyrfsX2
PubMed Link: 22205104
Variant Present in the following documents:
  • Main text
  • 10689_2011_Article_9505.pdf
View BVdb publication page