DICER1 c.5504_5507del ;(p.Y1835Sfs*2)

Variant ID: 14-95557560-GGGAT-G

NM_177438.2(DICER1):c.5504_5507del;(p.Y1835Sfs*2)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review.

Pharmacogenomics And Personalized Medicine
Ni, Yanglin Y; Zhou, Xuan X; Wu, Ling L; Wu, Ping P; Liu, Ying Y; Li, Yinnan Y; Cai, Li L; Fu, Xueshu X; Zhang, Chunhua C
Publication Date: 2021

Variant appearance in text: DICER1: 5504_5507delATCC
PubMed Link: 34377011
Variant Present in the following documents:
  • Main text
  • pgpm-14-947.pdf
View BVdb publication page



Spectrum of DICER1 Germline Pathogenic Variants in Ovarian Sertoli-Leydig Cell Tumor.

Journal Of Clinical Medicine
De Paolis, Elisa E; Paragliola, Rosa Maria RM; Concolino, Paola P
Publication Date: 2021-04-23

Variant appearance in text: Dicer: 5504_5507delATCC
PubMed Link: 33922805
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three synchronous malignancies in a patient with DICER1 syndrome.

European Journal Of Cancer (Oxford, England : 1990)
Moke, Diana J DJ; Thomas, Stefanie M SM; Hiemenz, Matthew C MC; Nael, Ali A; Wang, Kasper K; Shillingford, Nick N; Biegel, Jaclyn A JA; Mascarenhas, Leo L
Publication Date: 2018-04

Variant appearance in text: DICER1: 5504_5507delATCC; Tyr1835Serfs*2
PubMed Link: 29395683
Variant Present in the following documents:
  • Main text
View BVdb publication page