Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Asn350Ser (p.N350S)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Asn350Ser (p.N350S) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_005157.6(ABL1):c.992A>G (p.Asn331Ser) AND not provided
- ClinVar Allele ID
- 1910932
- ClinVar RefSeq Alternation Syntax
- NM_007313.3:c.1049A>G
- ClinVar RefSeq Alternation Syntax
- NM_005157.6:c.992A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-10-06
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002611490
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs