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
- Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- Source Database
- ClinVar
- Description
- NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) AND Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- 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
- Pathogenic
- Clinical Significance Last Update
- 2015-03-05
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013459
- ClinVar Disease
- Leukemia, Philadelphia chromosome-positive, resistant to imatinib
- Observed Origin Sample
- germline
- Pubmed
- 25686603
- Pubmed
- 11423618
- Pubmed
- 10988075
Drugs