NAGS N-acetylglutamate synthase

Information
Symbol
NAGS
Type
protein-coding
Description
N-acetylglutamate synthase
Entrez Gene ID
162417
Genome
hg19
Position
chr17:42,081,990-42,086,436
Genome
hg38
Position
chr17:44,004,622-44,009,068
MIM
608300 OMIM
HGNC
HGNC:17996 HGNC
Ensembl
ENSG00000161653 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 94
Likely pathogenic 0 84
Benign 0 46
Likely benign 0 708
Conflicting classifications of pathogenicity 0 38
Uncertain significance 0 224
Ranking
ClinVar
0
0
110
996
22
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AGAS
SYNONYM ARGA
MIM 608300 OMIM
HGNC HGNC:17996 HGNC
Ensembl ENSG00000161653 Ensembl
AllianceGenome HGNC:17996
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000293404.8 hg38 chr17 44,004,622 44,009,068 4,447
ENST00000293404.8 hg19 chr17 42,081,990 42,086,436 4,447
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