chr9:133750330:G>C Detail (hg19) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,750,330-133,750,330 |
| hg38 | chr9:130,874,943-130,874,943 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.1161G>C | NP_005148.2:p.Leu387Phe |
| NM_007313.2:c.1218G>C | NP_009297.2:p.Leu406Phe | |
| Ensemble | ENST00000318560.6:c.1161G>C | ENST00000318560.6:p.Leu387Phe |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| chronic myeloid leukemia | Nilotinib | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 16772610 | Detail |
| chronic myeloid leukemia | Bosutinib | C |
Predictive
|
Supports
|
Resistance | Somatic | 1 | 22371878 | Detail |
| chronic myeloid leukemia | Imatinib Mesylate | C |
Predictive
|
Supports
|
Resistance | Somatic | 1 | 22371878 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In an in vitro study, a Ba/F3-p210BCR-ABL1 cell line was ENU-mutated and exposed to graded concentra... | CIViC Evidence | Detail |
| This was a retrospective study of dasatinib and/or nilotinib-resistant or -intolerant patients pretr... | CIViC Evidence | Detail |
| In a study of 39 chronic phase CML patients with BCR-ABL variants, L387F was seen in a single imatin... | 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
- hg19
- Position
- chr9:133,750,330-133,750,330
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- BCR-ABL L387F
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1232
Genome browser