Annotation Detail

Information
Associated Genes
CDKN1B
Associated Variants
CDKN1B p.Val109Gly (p.V109G) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
CDKN1B p.Val109Gly (p.V109G) ( ENST00000228872.9, ENST00000396340.1, ENST00000614874.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_004064.5(CDKN1B):c.326T>G (p.Val109Gly) AND not provided
ClinVar Allele ID
254453
ClinVar RefSeq Alternation Syntax
NM_004064.5:c.326T>G
Clinical Significance Description
Benign
Clinical Significance Last Update
2018-06-22
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001711697
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs