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NOTCH1 c.515G>T ;(p.G172V)
Variant ID: 9-139417529-C-A
NM_017617.3(
NOTCH1
):c.515G>T;(p.G172V)
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:
The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencing.
Human Mutation
Lindqvist, Carl Mårten CM; Nordlund, Jessica J; Ekman, Diana D; Johansson, Anna A; Moghadam, Behrooz Torabi BT; Raine, Amanda A; Övernäs, Elin E; Dahlberg, Johan J; Wahlberg, Per P; Henriksson, Niklas N; Abrahamsson, Jonas J; Frost, Britt-Marie BM; Grandér, Dan D; Heyman, Mats M; Larsson, Rolf R; Palle, Josefine J; Söderhäll, Stefan S; Forestier, Erik E; Lönnerholm, Gudmar G; Syvänen, Ann-Christine AC; Berglund, Eva C EC
Publication Date: 2015-01
Variant appearance in text: NOTCH1: 515G>T; G172V
PubMed Link:
25355294
Variant Present in the following documents:
Main text
humu0036-0118.pdf
View BVdb publication page