chr13:28592641:T>A Detail (hg19) (FLT3)

Information

Genome

Assembly Position
hg19 chr13:28,592,641-28,592,641
hg38 chr13:28,018,504-28,018,504 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004119.2:c.2504A>T NP_004110.2:p.Asp835Val
Ensemble ENST00000241453.12:c.2504A>T ENST00000241453.12:p.Asp835Val
Summary

MGeND

Clinical significance not provided
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 136351 OMIM
HGNC 3765 HGNC
Ensembl ENSG00000122025 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM784 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Acute myeloblastic leukaemia somatic MGS000005
(TMGS000006) 		Keizo Horibe National Hospital Organization Nagoya Medical Center
not provided Myelodysplastic syndromes 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
Pathogenic 2004-05-01 no assertion criteria provided Acute lymphoid leukemia somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
acute myeloid leukemia Tandutinib D Predictive Supports Resistance Somatic 3 15256420 Detail
acute myeloid leukemia Sunitinib D Predictive Does Not Support Sensitivity/Response Somatic 3 15304385 Detail
acute myeloid leukemia Sunitinib,Cytarabine D Predictive Supports Sensitivity/Response Somatic 2 15304385 Detail
acute myeloid leukemia Sunitinib,Daunorubicin D Predictive Supports Sensitivity/Response Somatic 2 15304385 Detail
acute myeloid leukemia Quizartinib D Predictive Does Not Support Sensitivity/Response Somatic 5 23497317 Detail
acute myeloid leukemia AS602868,Tyrphostin AG 1296 D Predictive Supports Sensitivity/Response Somatic 3 17330097 Detail
acute myeloid leukemia Sunitinib C Predictive Supports Sensitivity/Response Somatic 15459012 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
Annotation

Annotations

DescrptionSourceLinks
Murine Ba/F3 cells with FLT3-D835V mutations were evaluated as non-responsive to MLN518 (Tandutinib)... CIViC Evidence Detail
Murine Ba/F3 cells with FLT3 D835V mutation were assessed as not sensitive to SU11248 (Sunitinib) wi... CIViC Evidence Detail
SU11248 + Cytarabin has a synergic effect on Murine Ba/F3 cells with FLT3 D835V mutation (Combinatio... CIViC Evidence Detail
SU11248 + Daunorubicin has a synergic effect on Murine Ba/F3 cells with FLT3 D835V mutation. (Combin... CIViC Evidence Detail
Murine Ba/F3 cell line has a restrictive sensitivity to Quizartinib(AC220), a second generation clas... CIViC Evidence Detail
Murine Ba/F3 cells with FLT3 D835V mutation were assessed as sensitive to both AS602868 and AG1296.(... CIViC Evidence Detail
In a retrospective study of 15 acute myeloid leukemia patients, the patients with FLT3 D835 mutation... CIViC Evidence Detail
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) AND Acute myeloid leukemia ClinVar Detail
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) AND Acute lymphoid leukemia ClinVar Detail
NA DisGeNET Detail
NA 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
rs121909646 dbSNP
Genome
hg19
Position
chr13:28,592,641-28,592,641
Variant Type
snv
Reference Allele
T
Alternative Allele
A
Variant (CIViC) (CIViC Variant)
D835V
Transcript 1 (CIViC Variant)
ENST00000241453.7
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/1302
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