chr13:28592642:C>G Detail (hg19) (FLT3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:28,592,642-28,592,642 |
| hg38 | chr13:28,018,505-28,018,505 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004119.2:c.2503G>C | NP_004110.2:p.Asp835His |
| Ensemble | ENST00000241453.12:c.2503G>C | ENST00000241453.12:p.Asp835His |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
Myelodysplastic syndromes |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center | ||||
|
not provided
|
Acute myeloblastic leukaemia |
somatic
|
MGS000005
(TMGS000006) |
Keizo Horibe | National Hospital Organization Nagoya Medical Center |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2015-07-14 | no assertion criteria provided | acute myeloid leukemia |
somatic
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| acute myeloid leukemia | Sorafenib | C |
Predictive
|
Supports
|
Resistance | Somatic | 3 | 23969938 | Detail |
| acute myeloid leukemia | Sorafenib | D |
Predictive
|
Supports
|
Resistance | Somatic | 1 | 23969938 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.560 | Leukemia, Myelocytic, Acute | NA | CLINVAR | Detail | |
| 0.130 | Acute lymphocytic leukemia | NA | CLINVAR | Detail | |
| 0.560 | Leukemia, Myelocytic, Acute | Our FLT3-Aurora kinase inhibitor, CCT137690, successfully inhibited growth of FL... | BeFree | 22354205 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Three children with relapsed or refractory FLT3-ITD-positive AML were treated with sorafenib. FLT3 m... | CIViC Evidence | Detail |
| Mouse Ba/F3 cells with FLT3 mutations were evaluated for sorafenib resistance. Cells with single FL... | CIViC Evidence | Detail |
| NM_004119.3(FLT3):c.2503G>C (p.Asp835His) AND Acute myeloid leukemia | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our FLT3-Aurora kinase inhibitor, CCT137690, successfully inhibited growth of FLT3-ITD-D835Y cells i... | DisGeNET | 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
- rs121913488 dbSNP
- Genome
- hg19
- Position
- chr13:28,592,642-28,592,642
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Variant (CIViC) (CIViC Variant)
- D835H
- Transcript 1 (CIViC Variant)
- ENST00000241453.7
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/612
- Variant (CIViC) (CIViC Variant)
- D835H/Y
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/613
Genome browser