chr1:162748407:G>T Detail (hg19) (DDR2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:162,748,407-162,748,407 |
| hg38 | chr1:162,778,617-162,778,617 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006182.2:c.2321G>T | NP_006173.2:p.Gly774Val |
| NM_001014796.1:c.2321G>T | NP_001014796.1:p.Gly774Val | |
| Ensemble | ENST00000367921.8:c.2321G>T | ENST00000367921.8:p.Gly774Val |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
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 G774V mutation have to be sensitive to the tyrosine kinase inhibit... | CIViC Evidence | Detail |
| NM_006182.4(DDR2):c.2321G>T (p.Gly774Val) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_006182.4(DDR2):c.2321G>T (p.Gly774Val) AND Non-small 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
- rs1057519790 dbSNP
- Genome
- hg19
- Position
- chr1:162,748,407-162,748,407
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- Variant (CIViC) (CIViC Variant)
- G774V
- Transcript 1 (CIViC Variant)
- ENST00000367922.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/144
- Summary (CIViC Variant)
- Activating mutations in DDR2, including G774V, has been shown to be sensitive to dasatinib in cell lines.
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