KMT2D c.2593G>T ;(p.E865*)

Variant ID: 12-49444873-C-A

NM_003482.3(KMT2D):c.2593G>T;(p.E865*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

KMT2D/MLL2 inactivation is associated with recurrence in adult-type granulosa cell tumors of the ovary.

Nature Communications
Hillman, R Tyler RT; Celestino, Joseph J; Terranova, Christopher C; Beird, Hannah C HC; Gumbs, Curtis C; Little, Latasha L; Nguyen, Tri T; Thornton, Rebecca R; Tippen, Samantha S; Zhang, Jianhua J; Lu, Karen H KH; Gershenson, David M DM; Rai, Kunal K; Broaddus, Russell R RR; Futreal, P Andrew PA
Publication Date: 2018-06-27

Variant appearance in text: KMT2D: Glu865X
PubMed Link: 29950560
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4950.pdf
View BVdb publication page