NOTCH1 c.4661G>C ;(p.C1554S)

Variant ID: 9-139399482-C-G

NM_017617.3(NOTCH1):c.4661G>C;(p.C1554S)

This variant was identified in 1 publication

View GRCh38 version.




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