CMAS cytidine monophosphate N-acetylneuraminic acid synthetase

Information
Symbol
CMAS
Type
protein-coding
Description
cytidine monophosphate N-acetylneuraminic acid synthetase
Entrez Gene ID
55907
Genome
hg19
Position
chr12:22,199,152-22,218,602
Genome
hg38
Position
chr12:22,046,218-22,065,668
MIM
603316 OMIM
HGNC
HGNC:18290 HGNC
Ensembl
ENSG00000111726 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 6
Uncertain significance 0 28
Ranking
ClinVar
0
0
2
36
0
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 CSS
MIM 603316 OMIM
HGNC HGNC:18290 HGNC
Ensembl ENSG00000111726 Ensembl
AllianceGenome HGNC:18290
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000229329.7 hg38 chr12 22,046,218 22,065,668 19,451
ENST00000229329.7 hg19 chr12 22,199,152 22,218,602 19,451
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