GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

Information
Symbol
GNPTAB
Type
protein-coding
Description
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Entrez Gene ID
79158
Genome
hg19
Position
chr12:102,139,277-102,224,737
Genome
hg38
Position
chr12:101,745,499-101,830,959
MIM
607840 OMIM
HGNC
HGNC:29670 HGNC
Ensembl
ENSG00000111670 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 40 424
Likely pathogenic 6 340
Benign 0 144
Likely benign 0 1,436
Conflicting classifications of pathogenicity 0 108
no classification for the single variant 0 10
not provided 0 80
Uncertain significance 0 572
Ranking
ClinVar
0
0
294
2,408
112
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 GNPTA
SYNONYM ICD
MIM 607840 OMIM
HGNC HGNC:29670 HGNC
Ensembl ENSG00000111670 Ensembl
AllianceGenome HGNC:29670
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392919.4 hg38 chr12 101,795,874 101,830,843 34,970
ENST00000299314.12 hg38 chr12 101,745,499 101,830,959 85,461
ENST00000549165.1 hg38 chr12 101,796,511 101,830,679 34,169
ENST00000549940.5 hg38 chr12 101,767,910 101,830,818 62,909
ENST00000299314.12 hg19 chr12 102,139,277 102,224,737 85,461
ENST00000549940.5 hg19 chr12 102,161,688 102,224,596 62,909
ENST00000392919.4 hg19 chr12 102,189,652 102,224,621 34,970
ENST00000549165.1 hg19 chr12 102,190,289 102,224,457 34,169
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