NOTCH1 c.1781G>T ;(p.G594V)

Variant ID: 9-139410057-C-A

NM_017617.3(NOTCH1):c.1781G>T;(p.G594V)

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:

Neonatal presentation of COG6-CDG with prominent skin phenotype.

Jimd Reports
Komlosi, Katalin K; Gläser, Selina S; Kopp, Julia J; Hotz, Alrun A; Alter, Svenja S; Zimmer, Andreas D AD; Beger, Carmela C; Heinzel, Stefan S; Schmidt, Christoph C; Fischer, Judith J
Publication Date: 2020-09

Variant appearance in text: NOTCH1: Gly594Val
PubMed Link: 32905044
Variant Present in the following documents:
  • Main text
  • JMD2-55-51.pdf
View BVdb publication page