NOTCH1 c.5639-174G>A

Variant ID: 9-139395473-C-T

NM_017617.3(NOTCH1):c.5639-174G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3124999
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Integrated genetic, epigenetic, and gene set enrichment analyses identify NOTCH as a potential mediator for PTSD risk after trauma: Results from two independent African cohorts.

Psychophysiology
Conrad, Daniela D; Wilker, Sarah S; Schneider, Anna A; Karabatsiakis, Alexander A; Pfeiffer, Anett A; Kolassa, Stephan S; Freytag, Virginie V; Vukojevic, Vanja V; Vogler, Christian C; Milnik, Annette A; Papassotiropoulos, Andreas A; J-F de Quervain, Dominique D; Elbert, Thomas T; Kolassa, Iris-Tatjana IT
Publication Date: 2020-01

Variant appearance in text: rs3124999
PubMed Link: 30328613
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: NOTCH1: 5639-174G>A; rs3124999
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Candidate gene association study in pediatric acute lymphoblastic leukemia evaluated by Bayesian network based Bayesian multilevel analysis of relevance.

Bmc Medical Genomics
Lautner-Csorba, Orsolya O; Gézsi, András A; Semsei, Agnes F AF; Antal, Péter P; Erdélyi, Dániel J DJ; Schermann, Géza G; Kutszegi, Nóra N; Csordás, Katalin K; Hegyi, Márta M; Kovács, Gábor G; Falus, András A; Szalai, Csaba C
Publication Date: 2012-09-28

Variant appearance in text: rs3124999
PubMed Link: 23021489
Variant Present in the following documents:
  • Main text
  • 1755-8794-5-42.pdf
View BVdb publication page