chr1:162759840:T>G Detail (hg38) (DDR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:162,729,630-162,729,630 View the variant detail on this assembly version. |
| hg38 | chr1:162,759,840-162,759,840 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006182.2:c.716T>G | NP_006173.2:p.Leu239Arg |
| NM_001014796.1:c.716T>G | NP_001014796.1:p.Leu239Arg | |
| Ensemble | ENST00000367921.8:c.716T>G | ENST00000367921.8:p.Leu239Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2014-12-26 | no assertion criteria provided | Squamous cell lung carcinoma |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung non-small cell carcinoma | Dasatinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 22328973 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In 3T3 fibroblasts expressing the L239R mutation have to be sensitive to the tyrosine kinase inhibit... | CIViC Evidence | Detail |
| NM_006182.4(DDR2):c.716T>G (p.Leu239Arg) AND Squamous cell lung carcinoma | ClinVar | 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
- -
- dbSNP
- rs578015216 dbSNP
- Genome
- hg38
- Position
- chr1:162,759,840-162,759,840
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- L239R
- Transcript 1 (CIViC Variant)
- ENST00000367922.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/140
- Summary (CIViC Variant)
- Activating mutations in DDR2, including L239R, has been shown to be sensitive to dasatinib in cell lines.
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