MMP12 matrix metallopeptidase 12

Information
Symbol
MMP12
Type
protein-coding
Description
matrix metallopeptidase 12
Entrez Gene ID
4321
Genome
hg19
Position
chr11:102,733,467-102,745,712
Genome
hg38
Position
chr11:102,862,736-102,874,982
MIM
601046 OMIM
HGNC
HGNC:7158 HGNC
Ensembl
ENSG00000262406 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
40
0
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 HME
SYNONYM ME
SYNONYM MME
SYNONYM MMP-12
MIM 601046 OMIM
HGNC HGNC:7158 HGNC
Ensembl ENSG00000262406 Ensembl
AllianceGenome HGNC:7158
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000571244.3 hg38 chr11 102,862,736 102,874,982 12,247
ENST00000571244.3 hg19 chr11 102,733,467 102,745,712 12,246
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