chr15:74022872:> Detail (hg38) (PML)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr15:74,315,213-74,315,219 |
| hg38 | chr15:74,022,872-74,022,878 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| acute promyelocytic leukemia | Tretinoin | B |
Predictive
|
Supports
|
Resistance | Somatic | 4 | 23670176 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Mutations in the B2 domain of PML in the PML-RARa fusion have been shown to be associated with resis... | 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
- chr15:74,022,872-74,022,878
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- B2 DOMAIN MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000268058.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/461
- Summary (CIViC Variant)
- The B2 domain in PML is the binding site for ATRA. Point mutations in this region have been associated with ATRA resistance in patients with APL.
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