DICER1 c.1827_1828insAG ;(p.V610Rfs*8)

Variant ID: 14-95582083-C-CCT

NM_177438.2(DICER1):c.1827_1828insAG;(p.V610Rfs*8)

This variant was identified in 2 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: 1827_1828insAG; Val610fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: DICER1: 1827_1828insAG
PubMed Link: 33922805
Variant Present in the following documents:
  • Main text
View BVdb publication page