chr19:33790840:> Detail (hg19) (CEBPA)

Information

Genome

Assembly Position
hg19 chr19:33,790,840-33,793,470
hg38 chr19:33,299,934-33,302,564 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
acute myeloid leukemia Tretinoin B Predictive Does Not Support Sensitivity/Response Somatic 3 19965647 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 19965647 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 4 18450602 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 3 14726504 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 4 19304957 Detail
acute myeloid leukemia B Prognostic Supports Better Outcome Somatic 4 25014773 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
In a randomized trial of previously untreated younger (<60) patients with acute myeloid leukemia (ex... CIViC Evidence Detail
In a group of young (<60 years old) acute myeloid leukemia (exclude acute promyelocytic leukemia) an... CIViC Evidence Detail
In young patients (age 16-60) with previously untreated, cytogenetically normal acute myeloid leukem... CIViC Evidence Detail
Overall survival and remission duration were significantly longer (p=0.01 and p=0.05, respectively) ... CIViC Evidence Detail
In children with acute myeloid leukemia, those with mutations in CEBPA had better overall and event-... CIViC Evidence Detail
In a set of 315 pediatric patients with acute myeloid leukemia, 47 had mutations in CEBPA. Those wit... 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
chr19:33,790,840-33,793,470
Variant Type
snv
Variant (CIViC) (CIViC Variant)
MUTATION
Transcript 1 (CIViC Variant)
ENST00000498907.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/29
Summary (CIViC Variant)
CEBPA mutations are associated with cytogenetically normal acute myeloid leukemia (CN-AML) and a favorable prognosis. However, NPM1 and FLT3 mutations should also be assessed in CN-AML patients as concurrent mutations may have prognostic implications.
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