KMT2C c.11029T>C ;(p.C3677R)

Variant ID: 7-151859633-A-G

NM_170606.2(KMT2C):c.11029T>C;(p.C3677R)

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: C3677R; rs759182615
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia.

Genome Research
Giacopelli, Brian B; Wang, Min M; Cleary, Ada A; Wu, Yue-Zhong YZ; Schultz, Anna Reister AR; Schmutz, Maximilian M; Blachly, James S JS; Eisfeld, Ann-Kathrin AK; Mundy-Bosse, Bethany B; Vosberg, Sebastian S; Greif, Philipp A PA; Claus, Rainer R; Bullinger, Lars L; Garzon, Ramiro R; Coombes, Kevin R KR; Bloomfield, Clara D CD; Druker, Brian J BJ; Tyner, Jeffrey W JW; Byrd, John C JC; Oakes, Christopher C CC
Publication Date: 2021-05

Variant appearance in text: KMT2C: Cys3677Arg
PubMed Link: 33707228
Variant Present in the following documents:
  • supp_gr.269233.120_Supplemental_Tables_S1_S2_S8-11.xlsx, sheet 5
View BVdb publication page