chr13:28592640:ATC> Detail (hg19) (FLT3)

Information

Genome

Assembly Position
hg19 chr13:28,592,640-28,592,642
hg38 chr13:28,018,503-28,018,505 

HGVS

Type Transcript Protein
RefSeq NM_004119.2:c.2503_2505delGAT NP_004110.2:p.Asp835del
Ensemble ENST00000241453.12:c.2503_2505delGAT ENST00000241453.12:p.Asp835del
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM796 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2015-07-14 no assertion criteria provided acute myeloid leukemia somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.560 Leukemia, Myelocytic, Acute NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) AND Acute myeloid 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
rs121913486 dbSNP
Genome
hg19
Position
chr13:28,592,640-28,592,642
Variant Type
snv
Reference Allele
ATC
Alternative Allele
-
Genome browser