RB1 c.1736_1745del ;(p.R579Qfs*29)

Variant ID: 13-49027161-AAAGGACCGAG-A

NM_000321.2(RB1):c.1736_1745del;(p.R579Qfs*29)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: RB1: 1729_1738delAAGGACCGAG
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Plos One
Tomar, Swati S; Sethi, Raman R; Sundar, Gangadhara G; Quah, Thuan Chong TC; Quah, Boon Long BL; Lai, Poh San PS
Publication Date: 2017

Variant appearance in text: RB1: 1736_1745del; Arg579Glnfs*29
PubMed Link: 28575107
Variant Present in the following documents:
  • Main text
  • pone.0178776.pdf
View BVdb publication page