KMT2D c.15540G>C ;(p.V5180=)

Variant ID: 12-49420209-C-G

NM_003482.3(KMT2D):c.15540G>C;(p.V5180=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: KMT2D: V5180V
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 54
View BVdb publication page



The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Epigenetics
Aref-Eshghi, Erfan E; Schenkel, Laila C LC; Lin, Hanxin H; Skinner, Cindy C; Ainsworth, Peter P; Paré, Guillaume G; Rodenhiser, David D; Schwartz, Charles C; Sadikovic, Bekim B
Publication Date: 2017

Variant appearance in text: KMT2D: 15540G>C; V5180V
PubMed Link: 28933623
Variant Present in the following documents:
  • Main text
View BVdb publication page