NAGPA N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

Information
Symbol
NAGPA
Type
protein-coding
Description
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Entrez Gene ID
51172
Genome
hg19
Position
chr16:5,074,845-5,083,936
Genome
hg38
Position
chr16:5,024,844-5,033,935
MIM
607985 OMIM
HGNC
HGNC:17378 HGNC
Ensembl
ENSG00000103174 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 20
Likely benign 0 32
Uncertain significance 0 94
Ranking
ClinVar
0
0
0
140
6
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 :
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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 APAA
SYNONYM UCE
MIM 607985 OMIM
HGNC HGNC:17378 HGNC
Ensembl ENSG00000103174 Ensembl
AllianceGenome HGNC:17378
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000312251.8 hg38 chr16 5,024,844 5,033,935 9,092
ENST00000381955.7 hg38 chr16 5,024,844 5,033,934 9,091
ENST00000312251.8 hg19 chr16 5,074,845 5,083,936 9,092
ENST00000381955.7 hg19 chr16 5,074,845 5,083,935 9,091
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