Annotation Detail
Information
- Associated Genes
- CASP9
- Associated Variants
-
CASP9 p.Gln221Arg (p.Q221R)
(
ENST00000333868.10,
ENST00000546424.5,
ENST00000348549.9,
ENST00000375890.8 )
CASP9 p.Gln221Arg (p.Q221R) ( ENST00000333868.10, ENST00000348549.9, ENST00000375890.8, ENST00000546424.5 ) - Associated Disease
- CASP9-related disorder
- Source Database
- ClinVar
- Description
- NM_001229.5(CASP9):c.662A>G (p.Gln221Arg) AND CASP9-related disorder
- ClinVar Allele ID
- 3196832
- ClinVar RefSeq Alternation Syntax
- NR_102733.2:n.537A>G
- ClinVar RefSeq Alternation Syntax
- NR_102732.2:n.735A>G
- ClinVar RefSeq Alternation Syntax
- NM_001278054.2:c.419-10596A>G
- ClinVar RefSeq Alternation Syntax
- NM_032996.3:c.413A>G
- ClinVar RefSeq Alternation Syntax
- NM_001229.5:c.662A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003979705
- ClinVar Disease
- CASP9-related disorder
- Observed Origin Sample
- germline
Drugs