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KMT2D c.16310A>G ;(p.N5437S)
Variant ID: 12-49416401-T-C
NM_003482.3(
KMT2D
):c.16310A>G;(p.N5437S)
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:
PI3K pathway regulates ER-dependent transcription in breast cancer through the epigenetic regulator KMT2D.
Science (New York, N.Y.)
Toska, Eneda E; Osmanbeyoglu, Hatice U HU; Castel, Pau P; Chan, Carmen C; Hendrickson, Ronald C RC; Elkabets, Moshe M; Dickler, Maura N MN; Scaltriti, Maurizio M; Leslie, Christina S CS; Armstrong, Scott A SA; Baselga, José J
Publication Date: 2017-03-24
Variant appearance in text: KMT2D: N5437S
PubMed Link:
28336670
Variant Present in the following documents:
Main text
View BVdb publication page