chr9:130872883:T>C Detail (hg38) (ABL1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:133,748,270-133,748,270 View the variant detail on this assembly version. |
| hg38 | chr9:130,872,883-130,872,883 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005157.5:c.931T>C | NP_005148.2:p.Phe311Leu |
| NM_007313.2:c.988T>C | NP_009297.2:p.Phe330Leu | |
| Ensemble | ENST00000318560.6:c.931T>C | ENST00000318560.6:p.Phe311Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2002-08-01 | no assertion criteria provided | chronic myelogenous leukemia, BCR-ABL1 positive |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| chronic myeloid leukemia | Bosutinib | C |
Predictive
|
Does Not Support
|
Resistance | Somatic | 2 | 21865346 | Detail |
| chronic myeloid leukemia | Nilotinib,Imatinib Mesylate | D |
Predictive
|
Supports
|
Resistance | Somatic | 2 | 16772610 | 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 |
| In an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expresse... | CIViC Evidence | Detail |
| NM_005157.6(ABL1):c.931T>C (p.Phe311Leu) 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
- rs137853304 dbSNP
- Genome
- hg38
- Position
- chr9:130,872,883-130,872,883
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Variant (CIViC) (CIViC Variant)
- BCR-ABL F311L
- Transcript 1 (CIViC Variant)
- ENST00000318560.5
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/1528
Genome browser