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EGF c.2080G>A ;(p.E694K)
Variant ID: 4-110901154-G-A
NM_001963.4(
EGF
):c.2080G>A;(p.E694K)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.
Human Molecular Genetics
McBride, Kim L KL; Riley, Maurisa F MF; Zender, Gloria A GA; Fitzgerald-Butt, Sara M SM; Towbin, Jeffrey A JA; Belmont, John W JW; Cole, Susan E SE
Publication Date: 2008-09-15
Variant appearance in text: EGF: E694K
PubMed Link:
18593716
Variant Present in the following documents:
Main text
View BVdb publication page