CDK4 AMPLIFICATION Detail (hg19) (CDK4)

Information

Genome

Assembly Position
hg19 chr12:58,141,510-58,146,304
hg38 chr12:57,747,727-57,752,521 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 123829 OMIM
HGNC 1773 HGNC
Ensembl ENSG00000135446 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
liposarcoma Palbociclib B Predictive Supports Sensitivity/Response Somatic 3 23569312 Detail
liposarcoma Palbociclib B Predictive Supports Sensitivity/Response Somatic 3 27124835 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a phase 2 clinical trial, NCT01209598, 30 patients with CDK4-amplified and RB-expressing well dif... CIViC Evidence Detail
More than 90% of well-differentiated or dedifferentiated liposarcomas (WD/DDLS) have CDK4 amplificat... 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
CDK4
Genome
hg19
Position
chr12:58,141,510-58,146,304
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
AMPLIFICATION
Transcript 1 (CIViC Variant)
ENST00000257904.6
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/553
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