Annotation Detail

Information
Associated Genes
CDAN1
Associated Variants
CDAN1 p.Phe52Leu (p.F52L) ( ENST00000356231.4 )
CDAN1 p.Phe52Leu (p.F52L) ( ENST00000356231.4 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu) AND not provided
ClinVar Allele ID
34598
ClinVar RefSeq Alternation Syntax
NM_138477.4:c.156C>G
Clinical Significance Description
Pathogenic/Likely pathogenic
Clinical Significance Last Update
2024-01-29
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000483236
ClinVar Disease
not provided
Observed Origin Sample
germline
Observed Origin Sample
unknown
Drugs