KMT2C c.12167A>G ;(p.K4056R)

Variant ID: 7-151851204-T-C

NM_170606.2(KMT2C):c.12167A>G;(p.K4056R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: KMT2C: K4056R; rs778602278
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: KMT2C: 12167A>G; Lys4056Arg; rs778602278
PubMed Link: 34535012
Variant Present in the following documents:
  • advancesADV2021004562-suppl2.xlsx, sheet 9
View BVdb publication page