NAGLU N-acetyl-alpha-glucosaminidase

Information
Symbol
NAGLU
Type
protein-coding
Description
N-acetyl-alpha-glucosaminidase
Entrez Gene ID
4669
Genome
hg19
Position
chr17:40,688,259-40,696,467
Genome
hg38
Position
chr17:42,536,241-42,544,449
MIM
609701 OMIM
HGNC
HGNC:7632 HGNC
Ensembl
ENSG00000108784 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 292
Likely pathogenic 0 242
Benign 0 54
Likely benign 0 1,050
Conflicting classifications of pathogenicity 0 120
not provided 0 2
Uncertain significance 0 758
Ranking
ClinVar
0
0
264
2,024
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 CMT2V
SYNONYM MPS-IIIB
SYNONYM MPS3B
SYNONYM NAG
SYNONYM UFHSD
MIM 609701 OMIM
HGNC HGNC:7632 HGNC
Ensembl ENSG00000108784 Ensembl
AllianceGenome HGNC:7632
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000225927.7 hg38 chr17 42,536,241 42,544,449 8,209
ENST00000225927.7 hg19 chr17 40,688,259 40,696,467 8,209
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