DICER1 c.1887G>A ;(p.T629=)

Variant ID: 14-95582024-C-T

NM_177438.2(DICER1):c.1887G>A;(p.T629=)

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: Thr629Thr
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: 1887G>A; Thr629=
PubMed Link: 33630087
Variant Present in the following documents:
  • jamanetwopen-e210112-s001.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: DICER1: 1887G>A; Thr629=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page