chr2:212295697:> Detail (hg19) (ERBB4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:212,295,697-212,578,308 |
| hg38 | chr2:211,430,972-211,713,583 |
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 |
|---|---|---|
| ERBB4 was the most commonly mutated protein tyrosine kinase in this study in melanoma (19% in 79 pat... | 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
- chr2:212,295,697-212,578,308
- Variant Type
- snv
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/310
- Summary (CIViC Variant)
- ERBB4 mutations have been identified in melanoma, lung adenocarcinoma and medulloblastoma. In-vitro studies suggest that melanoma cell lines harboring an ERBB4 mutation are sensitive to ERBB4 inhibition with lapatinib.
- Variant (CIViC) (CIViC Variant)
- MUTATION
- Transcript 1 (CIViC Variant)
- ENST00000342788.4
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