NOTCH1 c.4125G>T ;(p.L1375=)

Variant ID: 9-139400223-C-A

NM_017617.3(NOTCH1):c.4125G>T;(p.L1375=)

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:
PubMed Link: 18593716
Variant Present in the following documents:
  • Main text
View BVdb publication page