Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 p.Thr334Ile (p.T334I) ( ENST00000372348.9, ENST00000318560.6 )
ABL1 p.Thr334Ile (p.T334I) ( ENST00000372348.9, ENST00000318560.6 )
Associated Disease
Lymphoblastic leukemia, acute, with lymphomatous features
Source Database
ClinVar
Description
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) AND Lymphoblastic leukemia, acute, with lymphomatous features
ClinVar Allele ID
27663
ClinVar RefSeq Alternation Syntax
NM_007313.3:c.1001C>T
ClinVar RefSeq Alternation Syntax
NM_005157.6:c.944C>T
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2015-07-14
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000442565
ClinVar Disease
Lymphoblastic leukemia, acute, with lymphomatous features
Observed Origin Sample
somatic
Drugs