NOTCH1 c.4857C>G ;(p.Y1619*)

Variant ID: 9-139399286-G-C

NM_017617.3(NOTCH1):c.4857C>G;(p.Y1619*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Unravelling the Pathogenetic Mechanisms in Congenital Aortopathies: Need for an Integrative Translational Approach.

Journal Of Clinical Medicine
Girdauskas, Evaldas E; Kaemmerer, Harald H; von Kodolitsch, Yskert Y
Publication Date: 2020-01-11

Variant appearance in text: NOTCH1: Y1619X
PubMed Link: 31940858
Variant Present in the following documents:
  • Main text
  • jcm-09-00204.pdf
View BVdb publication page



Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

Bmc Medical Genetics
Foffa, Ilenia I; Ait Alì, Lamia L; Panesi, Paola P; Mariani, Massimiliano M; Festa, Pierluigi P; Botto, Nicoletta N; Vecoli, Cecilia C; Andreassi, Maria Grazia MG
Publication Date: 2013-04-11

Variant appearance in text: NOTCH1: Y1619X
PubMed Link: 23578328
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-44.pdf
View BVdb publication page