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NAGS c.1192A>T ;(p.S398C)
Variant ID: 17-42084786-A-T
NM_153006.2(
NAGS
):c.1192A>T;(p.S398C)
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:
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.
Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02
Variant appearance in text: NAGS: 1192A>T; Ser398Cys; rs1312599995
PubMed Link:
34078906
Variant Present in the following documents:
41525_2021_203_MOESM2_ESM.xlsx, sheet 1
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: S398C
PubMed Link:
27570737
Variant Present in the following documents:
main.pdf
View BVdb publication page