DICER1 c.1153del ;(p.R385Afs*73)

Variant ID: 14-95590756-CG-C

NM_177438.2(DICER1):c.1153del;(p.R385Afs*73)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


DICER1 Syndrome: DICER1 Mutations in Rare Cancers.

Cancers
Robertson, Jake C JC; Jorcyk, Cheryl L CL; Oxford, Julia Thom JT
Publication Date: 2018-05-15

Variant appearance in text: DICER1: 1153delC
PubMed Link: 29762508
Variant Present in the following documents:
  • Main text
  • cancers-10-00143.pdf
View BVdb publication page



A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report.

Journal Of Medical Case Reports
Rossing, Maria M; Gerdes, Anne-Marie AM; Juul, Anders A; Rechnitzer, Catherine C; Rudnicki, Martin M; Nielsen, Finn C FC; Vo Hansen, Thomas T
Publication Date: 2014-04-03

Variant appearance in text: DICER1: 1153delC; Arg385Alafs*73
PubMed Link: 24708902
Variant Present in the following documents:
  • Main text
  • 1752-1947-8-112.pdf
View BVdb publication page