Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.His415Arg (p.H415R)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.His415Arg (p.H415R) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- Lip and oral cavity carcinoma
- Source Database
- ClinVar
- Description
- NM_005157.6(ABL1):c.1187A>G (p.His396Arg) AND Lip and oral cavity carcinoma
- ClinVar Allele ID
- 362976
- ClinVar RefSeq Alternation Syntax
- NM_007313.3:c.1244A>G
- ClinVar RefSeq Alternation Syntax
- NM_005157.6:c.1187A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-04-30
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001255640
- ClinVar Disease
- Lip and oral cavity carcinoma
- Observed Origin Sample
- somatic
Drugs