NAGA alpha-N-acetylgalactosaminidase

Information
Symbol
NAGA
Type
protein-coding
Description
alpha-N-acetylgalactosaminidase
Entrez Gene ID
4668
Genome
hg19
Position
chr22:42,454,338-42,466,816
Genome
hg38
Position
chr22:42,058,334-42,070,812
MIM
104170 OMIM
HGNC
HGNC:7631 HGNC
Ensembl
ENSG00000198951 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 42
Likely pathogenic 0 20
Benign 0 66
Likely benign 0 390
Conflicting classifications of pathogenicity 0 26
Uncertain significance 0 196
Ranking
ClinVar
0
0
54
648
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 D22S674
SYNONYM GALB
MIM 104170 OMIM
HGNC HGNC:7631 HGNC
Ensembl ENSG00000198951 Ensembl
AllianceGenome HGNC:7631
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000403363.5 hg38 chr22 42,059,796 42,070,830 11,035
ENST00000402937.1 hg38 chr22 42,059,802 42,070,842 11,041
ENST00000396398.8 hg38 chr22 42,058,334 42,070,812 12,479
ENST00000396398.8 hg19 chr22 42,454,338 42,466,816 12,479
ENST00000403363.5 hg19 chr22 42,455,800 42,466,834 11,035
ENST00000402937.1 hg19 chr22 42,455,806 42,466,846 11,041
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