MMP14 matrix metallopeptidase 14
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 76 |
Likely benign | 0 | 174 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 280 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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42 |
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486 |
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4 |
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
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MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | MMP-14 |
SYNONYM | MMP-X1 |
SYNONYM | MT-MMP |
SYNONYM | MT-MMP 1 |
SYNONYM | MT1-MMP |
SYNONYM | MT1MMP |
SYNONYM | MTMMP1 |
SYNONYM | WNCHRS |
MIM | 600754 OMIM |
HGNC | HGNC:7160 HGNC |
Ensembl | ENSG00000157227 Ensembl |
AllianceGenome | HGNC:7160 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000548162.2 | hg38 | chr14 | 22,836,576 | 22,849,041 | 12,466 |
ENST00000311852.11 | hg38 | chr14 | 22,836,585 | 22,847,758 | 11,174 |
ENST00000548162.2 | hg19 | chr14 | 23,305,785 | 23,318,250 | 12,466 |
ENST00000311852.11 | hg19 | chr14 | 23,305,794 | 23,316,967 | 11,174 |
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