NAGS c.545del ;(p.A182Vfs*23)

Variant ID: 17-42083123-GC-G

NM_153006.2(NAGS):c.545del;(p.A182Vfs*23)

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:

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.

Molecular Genetics And Metabolism Reports
Al Kaabi, Eiman H EH; El-Hattab, Ayman W AW
Publication Date: 2016-09

Variant appearance in text: NAGS: 545delC; A182Vfs
PubMed Link: 27570737
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page