TIMP1 OVEREXPRESSION Detail (hg19) (TIMP1)

Information

Genome

Assembly Position
hg19 chrX:47,441,712-47,446,188
hg38 chrX:47,582,313-47,586,789 View the variant detail on this assembly version.
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 305370 OMIM
HGNC 11820 HGNC
Ensembl ENSG00000102265 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
breast cancer Fulvestrant D Predictive Supports Resistance N/A 2 23881388 Detail
breast cancer Paclitaxel B Predictive Supports Resistance N/A 2 22544540 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
TIMP1 overexpression was associated with resistance to fulvestrant in breast cancer cell lines. CIViC Evidence Detail
High expression of TIMP-1 was assessed by IHC in 99 primary breast cancers that had not spread beyon... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
TIMP1
Genome
hg19
Position
chrX:47,441,712-47,446,188
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
OVEREXPRESSION
Transcript 1 (CIViC Variant)
ENST00000218388.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/377
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