NANS N-acetylneuraminate synthase

Information
Symbol
NANS
Type
protein-coding
Description
N-acetylneuraminate synthase
Entrez Gene ID
54187
Genome
hg19
Position
chr9:100,819,014-100,845,359
Genome
hg38
Position
chr9:98,056,732-98,083,077
MIM
605202 OMIM
HGNC
HGNC:19237 HGNC
Ensembl
ENSG00000095380 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 14
Likely pathogenic 0 14
Benign 0 38
Likely benign 0 104
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 140
Ranking
ClinVar
0
0
38
254
14
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 HEL-S-100
SYNONYM SAS
SYNONYM SEMDCG
SYNONYM SEMDG
MIM 605202 OMIM
HGNC HGNC:19237 HGNC
Ensembl ENSG00000095380 Ensembl
AllianceGenome HGNC:19237
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000210444.6 hg38 chr9 98,056,732 98,083,077 26,346
ENST00000210444.6 hg19 chr9 100,819,014 100,845,359 26,346
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