RRM1 UNDEREXPRESSION Detail (hg38) (RRM1)

Information

Genome

Assembly Position
hg19 chr11:4,116,039-4,160,106 View the variant detail on this assembly version.
hg38 chr11:4,094,809-4,138,876
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 180410 OMIM
HGNC 10451 HGNC
Ensembl ENSG00000167325 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
lung non-small cell carcinoma Cisplatin,Gemcitabine B Predictive Supports Sensitivity/Response N/A 4 24595080 Detail
pancreatic cancer Gemcitabine B Predictive Supports Sensitivity/Response N/A 3 19543324 Detail
pancreatic cancer Gemcitabine B Predictive Supports Sensitivity/Response N/A 3 17131328 Detail
lung non-small cell carcinoma Docetaxel,Gemcitabine,Vinorelbine B Predictive Supports Sensitivity/Response N/A 4 24647522 Detail
lung non-small cell carcinoma Gemcitabine,Paclitaxel,Vinorelbine B Predictive Supports Sensitivity/Response Unknown 3 23038758 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In the personalized therapy group of this study, patients received chemotherapy based on RRM-1 IHC e... CIViC Evidence Detail
There were 68 patients enrolled in this study, 28 of which were treated with gemcitabine. Of those ... CIViC Evidence Detail
In this study, human pancreatic carcinoma cell line MiaPaCa2, which is a gemcitabine-sensitive cell ... CIViC Evidence Detail
In this study, 229 tumors were analyzed for RRM1 expression. This resulted in 146 that were negative... CIViC Evidence Detail
The study began with a total of 443 patients that were randomly assigned to either regimen A (Paclit... 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
RRM1
Genome
hg38
Position
chr11:4,094,809-4,138,876
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
UNDEREXPRESSION
Transcript 1 (CIViC Variant)
ENST00000300738.5
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1257
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