CDKN2A LOSS Detail (hg19) (CDKN2A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:21,967,752-21,994,623 |
| hg38 | chr9:21,967,753-21,994,624 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | Alvocidib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 12777976 | Detail |
| renal cell carcinoma | Palbociclib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 23898052 | Detail |
| skin melanoma | Palbociclib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 24495407 | Detail |
| ovarian cancer | Palbociclib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 21278246 | Detail |
| Her2-receptor negative breast cancer | Palbociclib,Letrozole | C |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 26715889 | Detail |
| Ewing sarcoma | Linsitinib,Palbociclib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 27286459 | Detail |
| dermatofibrosarcoma protuberans | Palbociclib | D |
Predictive
|
Supports
|
Sensitivity/Response |
Unknown
|
2 | 25852058 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Preclinical study in 9 melanoma cell lines. Three cell lines did not have CDKN2A (p16) mutations and... | CIViC Evidence | Detail |
| Preclinical study of CDK4/6 inhibitor PD-0332991 in 28 renal carcinoma cell lines (25 malignant RCC ... | CIViC Evidence | Detail |
| In a cohort of 143 patients with primary invasive melanoma hemizygous or homozygous loss of CDKN2A w... | CIViC Evidence | Detail |
| Preclinical study of the effects of PD-0332991 on proliferation, cell-cycle, apoptosis, and Rb phosp... | CIViC Evidence | Detail |
| A patient with metastatic ER-positive, her2-negative breast cancer with CDKN2A loss experienced a sh... | CIViC Evidence | Detail |
| A patient-derived xenograft (PDX) from a patient with cyclin-dependent kinase inhibitor 2A/B (CDKN2A... | CIViC Evidence | Detail |
| An imatinib-resistant cell line, DFSP105, was established from a dermatofibrosarcoma protuberans whi... | 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
- CDKN2A
- Genome
- hg19
- Position
- chr9:21,967,752-21,994,623
- Variant Type
- cnv
- Variant (CIViC) (CIViC Variant)
- LOSS
- Transcript 1 (CIViC Variant)
- ENST00000579755.1
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/554
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