KMT2D c.535G>T ;(p.G179C)

Variant ID: 12-49447899-C-A

NM_003482.3(KMT2D):c.535G>T;(p.G179C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Blood Advances
Koh, Jiwon J; Jang, Insoon I; Mun, Seungchan S; Lee, Cheol C; Cha, Hee Jeong HJ; Oh, Young Ha YH; Kim, Jin-Man JM; Han, Jae Ho JH; Paik, Jin Ho JH; Cho, Junhun J; Ko, Young Hyeh YH; Park, Chan-Sik CS; Go, Heounjeong H; Huh, Jooryung J; Kim, Kwangsoo K; Jeon, Yoon Kyung YK
Publication Date: 2021-10-26

Variant appearance in text: KMT2D: 535G>T; Gly179Cys
PubMed Link: 34535012
Variant Present in the following documents:
  • advancesADV2021004562-suppl2.xlsx, sheet 9
View BVdb publication page



Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.

Oncotarget
Johansson, Peter P; Aoude, Lauren G LG; Wadt, Karin K; Glasson, William J WJ; Warrier, Sunil K SK; Hewitt, Alex W AW; Kiilgaard, Jens Folke JF; Heegaard, Steffen S; Isaacs, Tim T; Franchina, Maria M; Ingvar, Christian C; Vermeulen, Tersia T; Whitehead, Kevin J KJ; Schmidt, Christopher W CW; Palmer, Jane M JM; Symmons, Judith J; Gerdes, Anne-Marie AM; Jönsson, Göran G; Hayward, Nicholas K NK
Publication Date: 2016-01-26

Variant appearance in text: KMT2D: 535G>T
PubMed Link: 26683228
Variant Present in the following documents:
  • oncotarget-07-4624-s002.xlsx, sheet 1
View BVdb publication page