Annotation Detail

Information
Associated Genes
CASP3
Associated Variants
CASP3 c.*337T>C ( ENST00000308394.9, ENST00000393585.6, ENST00000523916.5, ENST00000700100.1, ENST00000700101.1 )
CASP3 c.*337T>C ( ENST00000308394.9, ENST00000393585.6, ENST00000523916.5, ENST00000700100.1, ENST00000700101.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_004346.4(CASP3):c.*337T>C AND not provided
ClinVar Allele ID
1245040
ClinVar RefSeq Alternation Syntax
NM_001354777.2:c.*337T>C
ClinVar RefSeq Alternation Syntax
NM_001354782.2:c.*501T>C
ClinVar RefSeq Alternation Syntax
NM_001354781.2:c.*501T>C
ClinVar RefSeq Alternation Syntax
NM_001354783.2:c.*501T>C
ClinVar RefSeq Alternation Syntax
NM_001354780.2:c.*337T>C
ClinVar RefSeq Alternation Syntax
NM_001354779.2:c.*337T>C
ClinVar RefSeq Alternation Syntax
NM_004346.4:c.*337T>C
ClinVar RefSeq Alternation Syntax
NM_032991.3:c.*337T>C
ClinVar RefSeq Alternation Syntax
NM_001354784.2:c.*501T>C
Clinical Significance Description
Benign
Clinical Significance Last Update
2021-02-23
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001653217
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs