BRCA1 UNDEREXPRESSION Detail (hg19) (BRCA1)

Information

Genome

Assembly Position
hg19 chr17:41,196,312-41,277,387
hg38 chr17:43,044,295-43,125,370 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 113705 OMIM
HGNC 1100 HGNC
Ensembl ENSG00000012048 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
ovarian cancer Platinum Compound,Taxane Compound B Predictive Supports Sensitivity/Response Somatic 3 21920589 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Absent/low expression of BRCA1 (IHC) was associated with improved response to chemotherapy in 292 pa... 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
BRCA1
Genome
hg19
Position
chr17:41,196,312-41,277,387
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
UNDEREXPRESSION
Transcript 1 (CIViC Variant)
ENST00000357654.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/403
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