NOTCH1 c.4930C>T ;(p.L1644=)

Variant ID: 9-139399213-G-A

NM_017617.3(NOTCH1):c.4930C>T;(p.L1644=)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: NOTCH1: L1644=
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.

Frontiers In Genetics
Flück, Christa E CE; Audí, Laura L; Fernández-Cancio, Mónica M; Sauter, Kay-Sara KS; Martinez de LaPiscina, Idoia I; Castaño, Luis L; Esteva, Isabel I; Camats, Núria N
Publication Date: 2019

Variant appearance in text: NOTCH1: 4930C>T; Leu1644=; rs568700183
PubMed Link: 31555317
Variant Present in the following documents:
  • Main text
  • fgene-10-00746.pdf
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: NOTCH1: 4930C>T; Leu1644=; rs568700183
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s3.xlsx, sheet 1
View BVdb publication page