MMP20 matrix metallopeptidase 20

Information
Symbol
MMP20
Type
protein-coding
Description
matrix metallopeptidase 20
Entrez Gene ID
9313
Genome
hg19
Position
chr11:102,447,563-102,496,063
Genome
hg38
Position
chr11:102,576,832-102,625,332
MIM
604629 OMIM
HGNC
HGNC:7167 HGNC
Ensembl
ENSG00000137674 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 8
Benign 0 94
Likely benign 0 16
Conflicting classifications of pathogenicity 0 18
no classification for the single variant 0 4
not provided 0 2
Uncertain significance 0 162
Ranking
ClinVar
0
0
30
246
14
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 AI2A2
SYNONYM MMP-20
MIM 604629 OMIM
HGNC HGNC:7167 HGNC
Ensembl ENSG00000137674 Ensembl
AllianceGenome HGNC:7167
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000260228.3 hg38 chr11 102,576,832 102,625,332 48,501
ENST00000260228.3 hg19 chr11 102,447,563 102,496,063 48,501
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