chr9:130872946:C>T Detail (hg38) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,748,333-133,748,333 View the variant detail on this assembly version. |
| hg38 | chr9:130,872,946-130,872,946 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.994C>T | NP_005148.2:p.Arg332Trp |
| NM_007313.2:c.1051C>T | NP_009297.2:p.Arg351Trp | |
| Ensemble | ENST00000318560.6:c.994C>T | ENST00000318560.6:p.Arg332Trp |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung non-small cell carcinoma | Dasatinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 4 | 26758680 | Detail |
| lung non-small cell carcinoma | Imatinib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 5 | 26758680 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In this in vitro study, the H1915 non-small cell lung cancer cell line (homozygous for a R351W mutat... | CIViC Evidence | Detail |
| In this in vitro study, the H1915 non-small cell lung cancer cell line (homozygous for a R351W mutat... | 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
- chr9:130,872,946-130,872,946
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121366
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.239539904091756E-6
- Variant (CIViC) (CIViC Variant)
- R351W
- Transcript 1 (CIViC Variant)
- ENST00000372348.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1656
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