AGA aspartylglucosaminidase

Information
Symbol
AGA
Type
protein-coding
Description
aspartylglucosaminidase
Entrez Gene ID
175
Genome
hg19
Position
chr4:178,351,928-178,363,591
Genome
hg38
Position
chr4:177,430,774-177,442,437
MIM
613228 OMIM
HGNC
HGNC:318 HGNC
Ensembl
ENSG00000038002 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 96
Likely pathogenic 0 118
Benign 0 78
Likely benign 0 476
Conflicting classifications of pathogenicity 0 40
Uncertain significance 0 270
Ranking
ClinVar
0
0
136
812
34
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 AGU
SYNONYM ASRG
SYNONYM GA
MIM 613228 OMIM
HGNC HGNC:318 HGNC
Ensembl ENSG00000038002 Ensembl
AllianceGenome HGNC:318
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000264595.7 hg38 chr4 177,430,774 177,442,437 11,664
ENST00000264595.7 hg19 chr4 178,351,928 178,363,591 11,664
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