chr13:28018505:C>T Detail (hg38) (FLT3)

Information

Genome

Assembly Position
hg19 chr13:28,592,642-28,592,642 View the variant detail on this assembly version.
hg38 chr13:28,018,505-28,018,505

HGVS

Type Transcript Protein
RefSeq NM_004119.2:c.2503G>A NP_004110.2:p.Asp835Asn
Ensemble ENST00000241453.12:c.2503G>A ENST00000241453.12:p.Asp835Asn
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 tgv222212567 TogoVar
COSMIC COSM789 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2014-10-02 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
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

DescrptionSourceLinks
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn) 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
hg38
Position
chr13:28,018,505-28,018,505
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser