GNS glucosamine (N-acetyl)-6-sulfatase

Information
Symbol
GNS
Type
protein-coding
Description
glucosamine (N-acetyl)-6-sulfatase
Entrez Gene ID
2799
Genome
hg19
Position
chr12:65,107,229-65,153,186
Genome
hg38
Position
chr12:64,713,449-64,759,406
MIM
607664 OMIM
HGNC
HGNC:4422 HGNC
Ensembl
ENSG00000135677 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 104
Likely pathogenic 0 30
Benign 0 90
Likely benign 0 778
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 448
Ranking
ClinVar
0
0
100
1,328
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 :
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 G6S
MIM 607664 OMIM
HGNC HGNC:4422 HGNC
Ensembl ENSG00000135677 Ensembl
AllianceGenome HGNC:4422
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000258145.8 hg38 chr12 64,713,449 64,759,406 45,958
ENST00000543646.5 hg38 chr12 64,716,462 64,759,406 42,945
ENST00000418919.6 hg38 chr12 64,713,445 64,752,871 39,427
ENST00000542058.5 hg38 chr12 64,716,475 64,759,431 42,957
ENST00000418919.6 hg19 chr12 65,107,225 65,146,651 39,427
ENST00000258145.8 hg19 chr12 65,107,229 65,153,186 45,958
ENST00000543646.5 hg19 chr12 65,110,242 65,153,186 42,945
ENST00000542058.5 hg19 chr12 65,110,255 65,153,211 42,957
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