chr17:39725139:A>G Detail (hg38) (ERBB2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:37,881,392-37,881,392 View the variant detail on this assembly version. |
| hg38 | chr17:39,725,139-39,725,139 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004448.3:c.2584A>G | NP_004439.2:p.Thr862Ala |
| NM_001289937.1:c.2584A>G | NP_001276866.1:p.Thr862Ala | |
| NM_001005862.2:c.2494A>G | NP_001005862.1:p.Thr832Ala |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
salivary gland neoplasms |
somatic
|
MGS000044
(TMGS000097) |
Kohei Miyazono | Tokyo University |
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| stomach carcinoma | Lapatinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 3 | 22046346 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Cell proliferation analysis showed that the ERBB2-H878Y mutant had the highest sensitivity against l... | 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
- chr17:39,725,139-39,725,139
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- T862A
- Transcript 1 (CIViC Variant)
- ENST00000269571.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/871
Genome browser