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KIT c.1510_1511insATGCAT ;(p.Y503_F504insYA)
Variant ID: 4-55592185-T-TTATGCA
NM_000222.2(
KIT
):c.1510_1511insATGCAT;(p.Y503_F504insYA)
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:
Preferential MGMT methylation could predispose a subset of KIT/PDGFRA-WT GISTs, including SDH-deficient ones, to respond to alkylating agents.
Clinical Epigenetics
Ricci, Riccardo R; Martini, Maurizio M; Ravegnini, Gloria G; Cenci, Tonia T; Milione, Massimo M; Lanza, Paola P; Pierconti, Francesco F; Santini, Donatella D; Angelini, Sabrina S; Biondi, Alberto A; Rosa, Fausto F; Alfieri, Sergio S; Clemente, Gennaro G; Persiani, Roberto R; Cassano, Alessandra A; Pantaleo, Maria A MA; Larocca, Luigi M LM
Publication Date: 2019-01-07
Variant appearance in text: KIT: Y503_F504insYA
PubMed Link:
30616628
Variant Present in the following documents:
Main text
13148_2018_Article_594.pdf
View BVdb publication page