chr17:39725151:C>A Detail (hg38) (ERBB2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:37,881,404-37,881,404 View the variant detail on this assembly version. |
hg38 | chr17:39,725,151-39,725,151 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004448.3:c.2596C>A | NP_004439.2:p.Leu866Met |
NM_001289937.1:c.2596C>A | NP_001276866.1:p.Leu866Met | |
NM_001005862.2:c.2506C>A | NP_001005862.1:p.Leu836Met |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
---|---|---|---|---|---|---|---|---|---|
colon cancer | Trastuzumab,Lapatinib,Neratinib | D |
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Sensitivity/Response | Somatic | 4 | 26243863 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Colon cancer patient derived xenografts with HER2 mutations are sensitive to HER2 targeted drugs and... | 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
- chr17:39,725,151-39,725,151
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- L866M
- Transcript 1 (CIViC Variant)
- ENST00000269571.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/496
- Summary (CIViC Variant)
- This mutation was shown to be an activating mutation and conferred sensitivity to a combination of trastuzumab with neratinib or lapatinib in colorectal cancer patient-derived xenografts.
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