Annotation Detail

Information
Associated Genes
FLT3
Associated Variants
FLT3 p.Asp593del (p.D593del) ( ENST00000241453.12 )
FLT3 p.Asp593del (p.D593del) ( ENST00000241453.12 )
Associated Disease
Acute lymphoid leukemia
Source Database
ClinVar
Description
NM_004119.3(FLT3):c.1777_1779del (p.Asp593del) AND Acute lymphoid leukemia
ClinVar Allele ID
31317
ClinVar RefSeq Alternation Syntax
NM_004119.3:c.1777_1779del
ClinVar RefSeq Alternation Syntax
NR_130706.2:n.1843_1845del
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2004-05-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000017668
ClinVar Disease
Acute lymphoid leukemia
Observed Origin Sample
somatic
Pubmed
14670924
Drugs