KMT2D c.8203G>A ;(p.G2735S)

Variant ID: 12-49433244-C-T

NM_003482.3(KMT2D):c.8203G>A;(p.G2735S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene.

Genes, Chromosomes & Cancer
Juhlin, C Christofer CC; Stenman, Adam A; Haglund, Felix F; Clark, Victoria E VE; Brown, Taylor C TC; Baranoski, Jacob J; Bilguvar, Kaya K; Goh, Gerald G; Welander, Jenny J; Svahn, Fredrika F; Rubinstein, Jill C JC; Caramuta, Stefano S; Yasuno, Katsuhito K; Günel, Murat M; Bäckdahl, Martin M; Gimm, Oliver O; Söderkvist, Peter P; Prasad, Manju L ML; Korah, Reju R; Lifton, Richard P RP; Carling, Tobias T
Publication Date: 2015-09

Variant appearance in text: KMT2D: G2735S
PubMed Link: 26032282
Variant Present in the following documents:
  • Main text
  • GCC-54-542.pdf
View BVdb publication page