NOTCH1 c.3269C>G ;(p.T1090S)

Variant ID: 9-139402740-G-C

NM_017617.3(NOTCH1):c.3269C>G;(p.T1090S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Journal Of The American Heart Association
Mariscalco, Giovanni G; Debiec, Radoslaw R; Elefteriades, John A JA; Samani, Nilesh J NJ; Murphy, Gavin J GJ
Publication Date: 2018-08-07

Variant appearance in text: N/A
PubMed Link: 30371227
Variant Present in the following documents:
View BVdb publication page



Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm.

The Journal Of Thoracic And Cardiovascular Surgery
Kent, Kathleen C KC; Crenshaw, Melissa L ML; Goh, Denise L M DL; Dietz, Harry C HC
Publication Date: 2013-07

Variant appearance in text: NOTCH1: T1090S
PubMed Link: 23102684
Variant Present in the following documents:
  • Main text
View BVdb publication page