KMT2D c.12715C>T ;(p.Q4239*)

Variant ID: 12-49425773-G-A

NM_003482.3(KMT2D):c.12715C>T;(p.Q4239*)

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: KMT2D: 12715C>T; Gln4239Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary.

Nature Communications
Hillman, R Tyler RT; Celestino, Joseph J; Terranova, Christopher C; Beird, Hannah C HC; Gumbs, Curtis C; Little, Latasha L; Nguyen, Tri T; Thornton, Rebecca R; Tippen, Samantha S; Zhang, Jianhua J; Lu, Karen H KH; Gershenson, David M DM; Rai, Kunal K; Broaddus, Russell R RR; Futreal, P Andrew PA
Publication Date: 2018-06-27

Variant appearance in text: KMT2D: Gln4239X
PubMed Link: 29950560
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4950.pdf
View BVdb publication page