ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9

Information
Symbol
ADAMTS9
Type
protein-coding
Description
ADAM metallopeptidase with thrombospondin type 1 motif 9
Entrez Gene ID
56999
Genome
hg19
Position
chr3:64,501,330-64,673,676
Genome
hg38
Position
chr3:64,515,654-64,688,000
MIM
605421 OMIM
HGNC
HGNC:13202 HGNC
Ensembl
ENSG00000163638 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 224
Likely benign 0 132
Conflicting classifications of pathogenicity 0 12
Uncertain significance 0 314
Ranking
ClinVar
0
0
90
570
2
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
MIM 605421 OMIM
HGNC HGNC:13202 HGNC
Ensembl ENSG00000163638 Ensembl
AllianceGenome HGNC:13202
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000295903.8 hg38 chr3 64,515,813 64,687,679 171,867
ENST00000459780.1 hg38 chr3 64,649,942 64,687,990 38,049
ENST00000498707.5 hg38 chr3 64,515,654 64,688,000 172,347
ENST00000498707.5 hg19 chr3 64,501,330 64,673,676 172,347
ENST00000295903.8 hg19 chr3 64,501,489 64,673,355 171,867
ENST00000459780.1 hg19 chr3 64,635,618 64,673,666 38,049
Genome browser