chr13:28608278:TCA> Detail (hg19) (FLT3)

Information

Genome

Assembly Position
hg19 chr13:28,608,278-28,608,280
hg38 chr13:28,034,141-28,034,143 

HGVS

Type Transcript Protein
RefSeq NM_004119.2:c.1776_1778delTGA NP_004110.2:p.Asp593del
Ensemble ENST00000241453.12:c.1776_1778delTGA ENST00000241453.12:p.Asp593del
Summary

MGeND

Clinical significance
Variant entry
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 COSM19851 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-05-01 no assertion criteria provided Acute lymphoid leukemia somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.130 Acute lymphocytic leukemia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004119.3(FLT3):c.1777_1779del (p.Asp593del) AND Acute lymphoid leukemia ClinVar 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
rs587776834 dbSNP
Genome
hg19
Position
chr13:28,608,278-28,608,280
Variant Type
snv
Reference Allele
TCA
Alternative Allele
-
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