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