NAGS c.1464_1465del ;(p.H488Qfs*2)

Variant ID: 17-42085824-AAC-A

NM_153006.2(NAGS):c.1464_1465del;(p.H488Qfs*2)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.

Expert Review Of Endocrinology & Metabolism
Chapel-Crespo, Cristel C CC; Diaz, George A GA; Oishi, Kimihiko K
Publication Date: 2016

Variant appearance in text: NAGS: 1464_1465del; H488Qfs*2
PubMed Link: 30034506
Variant Present in the following documents:
  • Main text
View BVdb publication page


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: 1464_1465del; H488Qfs
PubMed Link: 27570737
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page