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NOTCH1 c.4660T>A ;(p.C1554S)
Variant ID: 9-139399483-A-T
NM_017617.3(
NOTCH1
):c.4660T>A;(p.C1554S)
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:
Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects.
Pediatric Cardiology
Durbin, Matthew D MD; Cadar, Adrian G AG; Williams, Charles H CH; Guo, Yan Y; Bichell, David P DP; Su, Yan Ru YR; Hong, Charles C CC
Publication Date: 2017-08
Variant appearance in text: NOTCH1: C1554s
PubMed Link:
28608148
Variant Present in the following documents:
Main text
View BVdb publication page