NOTCH1 c.628C>T ;(p.H210Y)

Variant ID: 9-139417416-G-A

NM_017617.3(NOTCH1):c.628C>T;(p.H210Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Diverse monogenic subforms of human spermatogenic failure.

Nature Communications
Nagirnaja, Liina L; Lopes, Alexandra M AM; Charng, Wu-Lin WL; Miller, Brian B; Stakaitis, Rytis R; Golubickaite, Ieva I; Stendahl, Alexandra A; Luan, Tianpengcheng T; Friedrich, Corinna C; Mahyari, Eisa E; Fadial, Eloise E; Kasak, Laura L; Vigh-Conrad, Katinka K; Oud, Manon S MS; Xavier, Miguel J MJ; Cheers, Samuel R SR; James, Emma R ER; Guo, Jingtao J; Jenkins, Timothy G TG; Riera-Escamilla, Antoni A; Barros, Alberto A; Carvalho, Filipa F; Fernandes, Susana S; Gonçalves, João J; Gurnett, Christina A CA; Jørgensen, Niels N; Jezek, Davor D; Jungheim, Emily S ES; Kliesch, Sabine S; McLachlan, Robert I RI; Omurtag, Kenan R KR; Pilatz, Adrian A; Sandlow, Jay I JI; Smith, James J; Eisenberg, Michael L ML; Hotaling, James M JM; Jarvi, Keith A KA; Punab, Margus M; Rajpert-De Meyts, Ewa E; Carrell, Douglas T DT; Krausz, Csilla C; Laan, Maris M; O'Bryan, Moira K MK; Schlegel, Peter N PN; Tüttelmann, Frank F; Veltman, Joris A JA; Almstrup, Kristian K; Aston, Kenneth I KI; Conrad, Donald F DF
Publication Date: 2022-12-26

Variant appearance in text: NOTCH1: H210Y
PubMed Link: 36572685
Variant Present in the following documents:
  • 41467_2022_35661_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



The mutational repertoire of uterine sarcomas and carcinosarcomas in a Brazilian cohort: A preliminary study.

Clinics (Sao Paulo, Brazil)
da Costa, Leonardo Tomiatti LT; Dos Anjos, Laura Gonzalez LG; Kagohara, Luciane Tsukamoto LT; Torrezan, Giovana Tardin GT; De Paula, Claudia A Andrade CAA; Baracat, Edmund Chada EC; Carraro, Dirce Maria DM; Carvalho, Katia Candido KC
Publication Date: 2021

Variant appearance in text: NOTCH1: 628C>T
PubMed Link: 33503190
Variant Present in the following documents:
  • Main text
View BVdb publication page