DICER1 c.2557A>G ;(p.I853V)

Variant ID: 14-95574310-T-C

NM_177438.2(DICER1):c.2557A>G;(p.I853V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Analyzing the Role of DICER1 Germline Variations in Papillary Thyroid Carcinoma.

European Thyroid Journal
Canberk, Sule S; Ferreira, Joana C JC; Pereira, Luísa L; Batısta, Rui R; Vieira, Andre F AF; Soares, Paula P; Sobrinho Simões, Manuel M; Máximo, Valdemar V
Publication Date: 2021-02

Variant appearance in text: DICER1: 2557A>G; Ile853Val
PubMed Link: 33718253
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.

Jama Network Open
Mirshahi, Uyenlinh L UL; Kim, Jung J; Best, Ana F AF; Chen, Zongming E ZE; Hu, Ying Y; Haley, Jeremy S JS; Golden, Alicia A; Stahl, Richard R; Manickam, Kandamurugu K; Carr, Ann G AG; Harney, Laura A LA; Field, Amanda A; Hatton, Jessica J; Schultz, Kris Ann P KAP; Bauer, Andrew J AJ; Hill, D Ashley DA; Rosenberg, Philip S PS; Murray, Michael F MF; Carey, David J DJ; Stewart, Douglas R DR
Publication Date: 2021-02-01

Variant appearance in text: DICER1: 2557A>G; Ile853Val
PubMed Link: 33630087
Variant Present in the following documents:
  • jamanetwopen-e210112-s001.pdf
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: DICER1: I853V; rs61729795
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page