NOTCH1 c.1555+86C>T

Variant ID: 9-139411638-G-A

NM_017617.3(NOTCH1):c.1555+86C>T

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:

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: rs113341997
PubMed Link: 23578328
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-44.pdf
View BVdb publication page