chr12:58141510:> Detail (hg19) (CDK4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:58,141,510-58,146,304 |
| hg38 | chr12:57,747,727-57,752,521 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In mouse xenograft studies of PIK3CA mutant breast cancers, the combination of PI3K and CDK4/6 inhib... | CIViC Evidence | Detail |
| A preclinical study to explore the efficacy of CDK4/6 inhibition with palbociclib, in a panel of sar... | 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
- -
- Genome
- hg19
- Position
- chr12:58,141,510-58,146,304
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- EXPRESSION
- Transcript 1 (CIViC Variant)
- ENST00000257904.6
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/25
- Summary (CIViC Variant)
- CDK4, along with its partner CDK6, are key players in cell cycle progression. The complex has been implicated in a number of cancer types, and is the focus of therapeutic research and development. One targeted therapy for CDK inhibition is palbociclib, which may slow the growth of advanced stage breast cancers. It has also been shown, in mouse, that CDK inhibition may sensitize mutant PIK3CA tumors to PI3K inhibitors.
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