MMP19 matrix metallopeptidase 19
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 12 |
Likely benign | 0 | 14 |
Uncertain significance | 0 | 58 |
Ranking
ClinVar | |
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0 |
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0 |
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4 |
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76 |
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2 |
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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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 | CODA |
SYNONYM | MMP18 |
SYNONYM | RASI-1 |
MIM | 601807 OMIM |
HGNC | HGNC:7165 HGNC |
Ensembl | ENSG00000123342 Ensembl |
AllianceGenome | HGNC:7165 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000409200.7 | hg38 | chr12 | 55,836,970 | 55,842,936 | 5,967 |
ENST00000322569.9 | hg38 | chr12 | 55,835,433 | 55,842,936 | 7,504 |
ENST00000548629.5 | hg38 | chr12 | 55,836,801 | 55,842,950 | 6,150 |
ENST00000322569.9 | hg19 | chr12 | 56,229,217 | 56,236,720 | 7,504 |
ENST00000548629.5 | hg19 | chr12 | 56,230,585 | 56,236,734 | 6,150 |
ENST00000409200.7 | hg19 | chr12 | 56,230,754 | 56,236,720 | 5,967 |
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