ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3

Information
Symbol
ADAMTS3
Type
protein-coding
Description
ADAM metallopeptidase with thrombospondin type 1 motif 3
Entrez Gene ID
9508
Genome
hg19
Position
chr4:73,146,686-73,434,938
Genome
hg38
Position
chr4:72,280,969-72,569,221
MIM
605011 OMIM
HGNC
HGNC:219 HGNC
Ensembl
ENSG00000156140 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Benign 0 36
Likely benign 0 50
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 148
Ranking
ClinVar
0
0
26
202
8
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 ADAMTS-4
SYNONYM HKLLS3
MIM 605011 OMIM
HGNC HGNC:219 HGNC
Ensembl ENSG00000156140 Ensembl
AllianceGenome HGNC:219
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000286657.10 hg38 chr4 72,280,969 72,569,221 288,253
ENST00000286657.10 hg19 chr4 73,146,686 73,434,938 288,253
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