Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Glu311Val (p.E311V)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Glu311Val (p.E311V) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- Congenital heart defects and skeletal malformations syndrome
- Source Database
- ClinVar
- Description
- NM_005157.6(ABL1):c.875A>T (p.Glu292Val) AND Congenital heart defects and skeletal malformations syndrome
- ClinVar Allele ID
- 2415555
- ClinVar RefSeq Alternation Syntax
- NM_005157.6:c.875A>T
- ClinVar RefSeq Alternation Syntax
- NM_007313.3:c.932A>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-11-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003148148
- ClinVar Disease
- Congenital heart defects and skeletal malformations syndrome
- Observed Origin Sample
- unknown
Drugs