chr9:133748414:T>A Detail (hg19) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,748,414-133,748,414 |
| hg38 | chr9:130,873,027-130,873,027 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.1075T>A | NP_005148.2:p.Phe359Ile |
| NM_007313.2:c.1132T>A | NP_009297.2:p.Phe378Ile | |
| Ensemble | ENST00000318560.6:c.1075T>A | ENST00000318560.6:p.Phe359Ile |
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 | chronic myelogenous leukemia, BCR-ABL1 positive |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| chronic myeloid leukemia | Axitinib | D |
Predictive
|
Does Not Support
|
Resistance | Somatic | 2 | 25686603 | Detail |
| chronic myeloid leukemia | Bosutinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 2 | 21865346 | Detail |
| chronic myeloid leukemia | Bosutinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 2 | 22371878 | Detail |
| chronic myeloid leukemia | Dasatinib | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 19779040 | Detail |
| chronic myeloid leukemia | Dasatinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 16775234 | Detail |
| chronic myeloid leukemia | Imatinib Mesylate | C |
Predictive
|
Supports
|
Resistance | Somatic | 1 | 22371878 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba... | CIViC Evidence | Detail |
| In this retrospective study, imatinib-resistant or -intolerant patients, with chronic phase CML and ... | CIViC Evidence | Detail |
| This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretr... | CIViC Evidence | Detail |
| This is a retrospective study of imatinib-resistant (n = 805) or -intolerant (n = 238), chronic myel... | CIViC Evidence | Detail |
| Prior to dasatinib treatment, one imatinib-resistant patient with chronic myeloid leukemia in chroni... | CIViC Evidence | Detail |
| In a study of 39 chronic phase CML patients with BCR-ABL variants, F359I was seen in two imatinib-re... | CIViC Evidence | Detail |
| NM_005157.6(ABL1):c.1075T>A (p.Phe359Ile) AND Chronic myelogenous leukemia, BCR-ABL1 positive | 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
- rs121913452 dbSNP
- Genome
- hg19
- Position
- chr9:133,748,414-133,748,414
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- Variant (CIViC) (CIViC Variant)
- BCR-ABL F359I
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1523
Genome browser