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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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