MMP13 matrix metallopeptidase 13

Information
Symbol
MMP13
Type
protein-coding
Description
matrix metallopeptidase 13
Entrez Gene ID
4322
Genome
hg19
Position
chr11:102,813,724-102,826,461
Genome
hg38
Position
chr11:102,942,995-102,955,732
MIM
600108 OMIM
HGNC
HGNC:7159 HGNC
Ensembl
ENSG00000137745 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 30
Likely pathogenic 0 28
Benign 12 70
Likely benign 0 150
Conflicting classifications of pathogenicity 0 42
Uncertain significance 0 268
Ranking
ClinVar
0
0
68
444
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
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 CLG3
SYNONYM MANDP1
SYNONYM MDST
SYNONYM MMP-13
MIM 600108 OMIM
HGNC HGNC:7159 HGNC
Ensembl ENSG00000137745 Ensembl
AllianceGenome HGNC:7159
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000340273.4 hg38 chr11 102,944,330 102,955,705 11,376
ENST00000260302.8 hg38 chr11 102,942,995 102,955,732 12,738
ENST00000260302.8 hg19 chr11 102,813,724 102,826,461 12,738
ENST00000340273.4 hg19 chr11 102,815,059 102,826,434 11,376
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