Annotation Detail

Information
Associated Genes
CASP9
Associated Variants
CASP9 p.Leu106Val (p.L106V) ( ENST00000348549.9, ENST00000375890.8, ENST00000546424.5, ENST00000333868.10 )
CASP9 p.Leu106Val (p.L106V) ( ENST00000333868.10, ENST00000348549.9, ENST00000375890.8, ENST00000546424.5 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001229.5(CASP9):c.316C>G (p.Leu106Val) AND not provided
ClinVar Allele ID
718256
ClinVar RefSeq Alternation Syntax
NM_032996.3:c.67C>G
ClinVar RefSeq Alternation Syntax
NM_001229.5:c.316C>G
ClinVar RefSeq Alternation Syntax
NR_102732.2:n.331C>G
ClinVar RefSeq Alternation Syntax
NM_001278054.2:c.316C>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-07-18
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000880954
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs