TIMP1 TIMP metallopeptidase inhibitor 1

Information
Symbol
TIMP1
Type
protein-coding
Description
TIMP metallopeptidase inhibitor 1
Entrez Gene ID
7076
Genome
hg19
Position
chrX:47,441,835-47,446,188
Genome
hg38
Position
chrX:47,582,436-47,586,789
MIM
305370 OMIM
HGNC
HGNC:11820 HGNC
Ensembl
ENSG00000102265 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 6
not provided 7 0
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
14
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
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 CLGI
SYNONYM EPA
SYNONYM EPO
SYNONYM HCI
SYNONYM TIMP
SYNONYM TIMP-1
MIM 305370 OMIM
HGNC HGNC:11820 HGNC
Ensembl ENSG00000102265 Ensembl
AllianceGenome HGNC:11820
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000377017.5 hg38 chrX 47,582,450 47,586,789 4,340
ENST00000218388.9 hg38 chrX 47,582,436 47,586,789 4,354
ENST00000456754.6 hg38 chrX 47,582,408 47,586,023 3,616
ENST00000456754.6 hg19 chrX 47,441,807 47,445,422 3,616
ENST00000218388.9 hg19 chrX 47,441,835 47,446,188 4,354
ENST00000377017.5 hg19 chrX 47,441,849 47,446,188 4,340
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