chr9:133748331:A>G Detail (hg19) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,748,331-133,748,331 |
| hg38 | chr9:130,872,944-130,872,944 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.992A>G | NP_005148.2:p.Asn331Ser |
| NM_007313.2:c.1049A>G | NP_009297.2:p.Asn350Ser | |
| Ensemble | ENST00000318560.6:c.992A>G | ENST00000318560.6:p.Asn331Ser |
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 |
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2023-10-06 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| chronic myeloid leukemia | Bosutinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 1 | 21865346 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ... | CIViC Evidence | Detail |
| NM_005157.6(ABL1):c.992A>G (p.Asn331Ser) AND not provided | 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
- -
- Genome
- hg19
- Position
- chr9:133,748,331-133,748,331
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1555350127108852E-4
- Chromosome Counts in All Race (ExAC)
- 121370
- Allele Counts in All Race (ExAC)
- 8
- Heterozygous Counts in All Race (ExAC)
- 8
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 6.591414682376204E-5
- Variant (CIViC) (CIViC Variant)
- BCR-ABL N331S
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1529
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