Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Tyr272His (p.Y272H)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Tyr272His (p.Y272H) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- chronic myelogenous leukemia, BCR-ABL1 positive
- Source Database
- ClinVar
- Description
- NM_005157.6(ABL1):c.757T>C (p.Tyr253His) AND Chronic myelogenous leukemia, BCR-ABL1 positive
- ClinVar Allele ID
- 27666
- ClinVar RefSeq Alternation Syntax
- NM_005157.6:c.757T>C
- ClinVar RefSeq Alternation Syntax
- NM_007313.3:c.814T>C
- 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/RCV000433552
- ClinVar Disease
- Chronic myelogenous leukemia, BCR-ABL1 positive
- Observed Origin Sample
- somatic
Drugs