KMT2D c.1404A>C ;(p.S468=)

Variant ID: 12-49446062-T-G

NM_003482.3(KMT2D):c.1404A>C;(p.S468=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clonal evolution in diffuse large B-cell lymphoma with central nervous system recurrence.

Esmo Open
Magnes, T T; Wagner, S S; Thorner, A R AR; Neureiter, D D; Klieser, E E; Rinnerthaler, G G; Weiss, L L; Huemer, F F; Zaborsky, N N; Steiner, M M; Weis, S S; Greil, R R; Egle, A A; Melchardt, T T
Publication Date: 2021-02

Variant appearance in text: KMT2D: S468S
PubMed Link: 33399078
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.

Nature Communications
Davies, Helen R HR; Hodgson, Kirsty K; Schwalbe, Edward E; Coxhead, Jonathan J; Sinclair, Naomi N; Zou, Xueqing X; Cockell, Simon S; Husain, Akhtar A; Nik-Zainal, Serena S; Rajan, Neil N
Publication Date: 2019-10-17

Variant appearance in text: KMT2D: 1404A>C; S468S
PubMed Link: 31624251
Variant Present in the following documents:
  • 41467_2019_12746_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page