DICER1 c.83T>C ;(p.F28S)

Variant ID: 14-95599713-A-G

NM_177438.2(DICER1):c.83T>C;(p.F28S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: DICER1: 83T>C; Phe28Ser; rs61729796
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 2
View BVdb publication page



Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One
He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM
Publication Date: 2016

Variant appearance in text: DICER1: F28S
PubMed Link: 27930734
Variant Present in the following documents:
  • pone.0167847.s002.xls, sheet 1
View BVdb publication page