chr13:48303775:> Detail (hg38) (RB1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:48,877,911-49,056,122 |
| hg38 | chr13:48,303,775-48,481,986 |
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
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| breast cancer | Alpelisib | B |
Predictive
|
Supports
|
Resistance |
N/A
|
3 | 25002028 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The p110alpha-specific PI3K inhibitor BYL719 (Alpelisib) was used on a panel of five PI3K inhibitor ... | 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
- hg38
- Position
- chr13:48,303,775-48,481,986
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- PHOSPHORYLATION
- Transcript 1 (CIViC Variant)
- ENST00000267163.4
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/632
Genome browser