DICER1 c.3675C>G ;(p.Y1225*)

Variant ID: 14-95570058-G-C

NM_177438.2(DICER1):c.3675C>G;(p.Y1225*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: DICER1: 3675C>G; Tyr1225Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report.

Italian Journal Of Pediatrics
Zhang, Shihan S; Wang, Xisi X; Li, Sihui S; Cai, Siyu S; Yu, Tong T; Fu, Libing L; Zhang, Na N; Peng, Xiaoxia X; Zeng, Qi Q; Ma, Xiaoli X
Publication Date: 2020-10-07

Variant appearance in text: DICER1: Y1225X
PubMed Link: 33028416
Variant Present in the following documents:
  • Main text
  • 13052_2020_Article_912.pdf
View BVdb publication page



Molecular Profiling of Hard-to-Treat Childhood and Adolescent Cancers.

Jama Network Open
Khater, Fida F; Vairy, Stephanie S; Langlois, Sylvie S; Dumoucel, Sophie S; Sontag, Thomas T; St-Onge, Pascal P; Bittencourt, Henrique H; Dal Soglio, Dorothée D; Champagne, Josette J; Duval, Michel M; Leclerc, Jean-Marie JM; Laverdiere, Caroline C; Tran, Thai Hoa TH; Patey, Natalie N; Ellezam, Benjamin B; Perreault, Sébastien S; Piché, Nelson N; Samson, Yvan Y; Teira, Pierre P; Jabado, Nada N; Michon, Bruno B; Brossard, Josée J; Marzouki, Monia M; Cellot, Sonia S; Sinnett, Daniel D
Publication Date: 2019-04-05

Variant appearance in text: DICER1: Y1225X
PubMed Link: 31026031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study.

The Journal Of Clinical Endocrinology And Metabolism
Khan, Nicholas E NE; Bauer, Andrew J AJ; Schultz, Kris Ann P KAP; Doros, Leslie L; Decastro, Rosamma M RM; Ling, Alexander A; Lodish, Maya B MB; Harney, Laura A LA; Kase, Ron G RG; Carr, Ann G AG; Rossi, Christopher T CT; Field, Amanda A; Harris, Anne K AK; Williams, Gretchen M GM; Dehner, Louis P LP; Messinger, Yoav H YH; Hill, D Ashley DA; Stewart, Douglas R DR
Publication Date: 2017-05-01

Variant appearance in text: DICER1: 3675C>G
PubMed Link: 28323992
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germ-line and somatic DICER1 mutations in pineoblastoma.

Acta Neuropathologica
de Kock, Leanne L; Sabbaghian, Nelly N; Druker, Harriet H; Weber, Evan E; Hamel, Nancy N; Miller, Suzanne S; Choong, Catherine S CS; Gottardo, Nicholas G NG; Kees, Ursula R UR; Rednam, Surya P SP; van Hest, Liselotte P LP; Jongmans, Marjolijn C MC; Jhangiani, Shalini S; Lupski, James R JR; Zacharin, Margaret M; Bouron-Dal Soglio, Dorothée D; Huang, Annie A; Priest, John R JR; Perry, Arie A; Mueller, Sabine S; Albrecht, Steffen S; Malkin, David D; Grundy, Richard G RG; Foulkes, William D WD
Publication Date: 2014-10

Variant appearance in text: DICER1: 3675C>G; Tyr1225*
PubMed Link: 25022261
Variant Present in the following documents:
  • Main text
View BVdb publication page