KMT2D c.16290C>G ;(p.I5430M)

Variant ID: 12-49416421-G-C

NM_003482.3(KMT2D):c.16290C>G;(p.I5430M)

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:

Small Cell Lung Cancer Exhibits Frequent Inactivating Mutations in the Histone Methyltransferase KMT2D/MLL2: CALGB 151111 (Alliance).

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Augert, Arnaud A; Zhang, Qing Q; Bates, Breanna B; Cui, Min M; Wang, Xiaofei X; Wildey, Gary G; Dowlati, Afshin A; MacPherson, David D
Publication Date: 2017-04

Variant appearance in text: KMT2D: I5430M
PubMed Link: 28007623
Variant Present in the following documents:
  • Main text
View BVdb publication page