Annotation Detail

Information
Associated Genes
FLT3
Associated Variants
FLT3 p.Asp835His (p.D835H) ( ENST00000241453.12 )
FLT3 p.Asp835His (p.D835H) ( ENST00000241453.12 )
Associated Disease
acute myeloid leukemia
Source Database
ClinVar
Description
NM_004119.3(FLT3):c.2503G>C (p.Asp835His) AND Acute myeloid leukemia
ClinVar Allele ID
31312
ClinVar RefSeq Alternation Syntax
NR_130706.2:n.2701G>C
ClinVar RefSeq Alternation Syntax
NM_004119.3:c.2503G>C
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2015-07-14
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000017662
ClinVar Disease
Acute myeloid leukemia
Observed Origin Sample
somatic
Pubmed
11290608
Pubmed
11442493
Drugs