chr7:148811634:> Detail (hg38) (EZH2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:148,508,726-148,508,728 |
| hg38 | chr7:148,811,634-148,811,636 |
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 |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | GSK126 | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 26304929 | Detail |
| diffuse large B-cell lymphoma | B |
Diagnostic
|
Supports
|
Positive | Somatic | 4 | 20081860 | Detail | |
| follicular lymphoma | B |
Diagnostic
|
Supports
|
Positive | Somatic | 4 | 20081860 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Preclinical study in melanoma cell lines. EZH2 expression was higher in EZH2 mutant (N=3) and wild-t... | CIViC Evidence | Detail |
| Heterozygous mutations in EZH2 at Y641 were the second most frequent genetic event (after BCL2 t(14;... | CIViC Evidence | Detail |
| Heterozygous mutations in EZH2 at Y641 were the second most frequent genetic event (after BCL2 t(14;... | 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
- chr7:148,811,634-148,811,636
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- Y646
- Transcript 1 (CIViC Variant)
- ENST00000320356.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/165
- Summary (CIViC Variant)
- Mutations of Y646 are associated with a diagnosis of Germinal Center B type DLBCL and Follicular non-Hodgkin Lymphoma. In vitro experimental findings suggest that this may be due to reduced methyltransferase activity of EZH2 on protein H3K27 (Morin et al., 2010).
- Variant (CIViC) (CIViC Variant)
- Y641S
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2666
- Variant (CIViC) (CIViC Variant)
- Y646F
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/2989
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