BIRC5 OVEREXPRESSION Detail (hg38) (BIRC5)

Information

Genome

Assembly Position
hg19 chr17:76,210,267-76,221,717 View the variant detail on this assembly version.
hg38 chr17:78,214,186-78,225,636
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 603352 OMIM
HGNC 593 HGNC
Ensembl ENSG00000089685 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
Her2-receptor positive breast cancer Trastuzumab B Predictive Supports Resistance Somatic 4 23204226 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
13 HER2 breast cancer patients were treated with trastuzumab and then trastuzumab + docetaxel prior ... 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
BIRC5
Genome
hg38
Position
chr17:78,214,186-78,225,636
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
OVEREXPRESSION
Transcript 1 (CIViC Variant)
ENST00000301633.4
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/578
Genome browser