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NOTCH1 c.5154_5155insCGC ;(p.I1718_E1719insR)
Variant ID: 9-139397646-C-CGCG
NM_017617.3(
NOTCH1
):c.5154_5155insCGC;(p.I1718_E1719insR)
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:
Failure of tofacitinib to achieve an objective response in a DDX3X-MLLT10 T-lymphoblastic leukemia with activating JAK3 mutations.
Cold Spring Harbor Molecular Case Studies
Wong, Jonathan J; Wall, Meaghan M; Corboy, Gregory Philip GP; Taubenheim, Nadine N; Gregory, Gareth Peter GP; Opat, Stephen S; Shortt, Jake J
Publication Date: 2020-08
Variant appearance in text: NOTCH1: 5154_5155insCGC; Ile1718_Glu1719insArg
PubMed Link:
32843425
Variant Present in the following documents:
Main text
MCS004994Won.pdf
View BVdb publication page